DDX59[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 3058319	NM_001320181.2(DDX59):c.1632T>G (p.Ile544Met)	DDX59 (I544M)	Single nucleotide variant (missense variant +1 more)	DDX59-related disorder	GLikely benign
Select item 1332918	NM_001031725.6(DDX59):c.1859G>T (p.Ter620Leu)	DDX59	Single nucleotide variant (stop lost +1 more)	Orofaciodigital syndrome V	GPathogenic
Select item 3081180	NM_001031725.6(DDX59):c.1826T>A (p.Ile609Asn)	DDX59 (I431N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3026097	NM_001031725.6(DDX59):c.1803A>C (p.Thr601=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3271394	NM_001031725.6(DDX59):c.1763A>G (p.Glu588Gly)	DDX59 (E410G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1361305	NM_001031725.6(DDX59):c.1687C>T (p.Arg563Ter)	DDX59 (R385* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1994347	NM_001031725.6(DDX59):c.1666C>G (p.Leu556Val)	DDX59 (L513V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 800916	NM_001031725.6(DDX59):c.1648AAT[2] (p.Asn552del)	DDX59 (N438del +4 more)	Microsatellite (inframe_deletion +1 more)	Orofaciodigital syndrome V	GLikely pathogenic
Select item 1898627	NM_001031725.6(DDX59):c.1633G>A (p.Ala545Thr)	DDX59 (A461T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1575037	NM_001031725.6(DDX59):c.1632A>G (p.Thr544=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 88654	NM_001031725.6(DDX59):c.1600G>A (p.Gly534Arg)	DDX59 (G534R +4 more)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome V	GUncertain significance
Select item 3081179	NM_001031725.6(DDX59):c.1597A>G (p.Ile533Val)	DDX59 (I355V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1299500	NM_001031725.6(DDX59):c.1597-6T>G	DDX59	Single nucleotide variant (intron variant)	Orofaciodigital syndrome V	GLikely pathogenic
Select item 1269466	NM_001031725.6(DDX59):c.1596+34C>A	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3081178	NM_001031725.6(DDX59):c.1543A>G (p.Arg515Gly)	DDX59 (R431G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 728607	NM_001031725.6(DDX59):c.1538G>A (p.Ser513Asn)	DDX59 (S513N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 758167	NM_001031725.6(DDX59):c.1527A>G (p.Leu509=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3271392	NM_001031725.6(DDX59):c.1520G>A (p.Arg507Gln)	DDX59 (R507Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639726	NM_001031725.6(DDX59):c.1482A>G (p.Gly494=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1615789	NM_001031725.6(DDX59):c.1468-12T>G	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255474	NM_001031725.6(DDX59):c.1431A>G (p.Ser477=)	DDX59	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 771948	NM_001031725.6(DDX59):c.1431= (p.Ser477=)	DDX59	Variation (no sequence alteration +2 more)	not provided	GBenign
Select item 730282	NM_001031725.6(DDX59):c.1423A>G (p.Ile475Val)	DDX59 (I361V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 722151	NM_001031725.6(DDX59):c.1391T>C (p.Val464Ala)	DDX59 (V350A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2055813	NM_001031725.6(DDX59):c.1362A>G (p.Lys454=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 709584	NM_001031725.6(DDX59):c.1337C>T (p.Pro446Leu)	DDX59 (P446L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2384408	NM_001031725.6(DDX59):c.1334C>T (p.Pro445Leu)	DDX59 (P361L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 749322	NM_001031725.6(DDX59):c.1329T>C (p.Phe443=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1529855	NM_001031725.6(DDX59):c.1315-4T>G	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220833	NM_001031725.6(DDX59):c.1314+220T>A	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247913	NM_001031725.6(DDX59):c.1314+75G>T	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231036	NM_001031725.6(DDX59):c.1314+23A>G	DDX59	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1384851	NM_001031725.6(DDX59):c.1260T>G (p.Ile420Met)	DDX59 (I420M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1664875	NM_001031725.6(DDX59):c.1253G>A (p.Arg418His)	DDX59 (R418H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1701118	NM_001031725.6(DDX59):c.1247A>G (p.Asn416Ser)	DDX59 (N416S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2475350	NM_001031725.6(DDX59):c.1237C>A (p.Pro413Thr)	DDX59 (P413T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381743	NM_001031725.6(DDX59):c.1232A>G (p.Asn411Ser)	DDX59 (N411S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2044854	NM_001031725.6(DDX59):c.1213A>G (p.Ile405Val)	DDX59 (I405V)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2353964	NM_001031725.6(DDX59):c.1200T>A (p.His400Gln)	DDX59 (H400Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3271393	NM_001031725.6(DDX59):c.1198C>T (p.His400Tyr)	DDX59 (H400Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2635522	NM_001031725.6(DDX59):c.1197del (p.His400fs)	DDX59 (H400fs)	Deletion (frameshift variant +1 more)	DDX59-related disorder	GUncertain significance
Select item 2551931	NM_001031725.6(DDX59):c.1162C>T (p.Pro388Ser)	DDX59 (P388S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2074751	NM_001031725.6(DDX59):c.1149T>C (p.Val383=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 591043	NM_001031725.6(DDX59):c.1136del (p.Gln379fs)	DDX59 (Q379fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3081177	NM_001031725.6(DDX59):c.1117A>G (p.Asn373Asp)	DDX59 (N373D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1570946	NM_001031725.6(DDX59):c.1107C>T (p.Asp369=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 88653	NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly)	DDX59 (V367G)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome V +1 more	GPathogenic/Likely pathogenic
Select item 780088	NM_001031725.6(DDX59):c.1098A>G (p.Gln366=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1587106	NM_001031725.6(DDX59):c.1095A>G (p.Gln365=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3081176	NM_001031725.6(DDX59):c.1092A>C (p.Gln364His)	DDX59 (Q364H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1564320	NM_001031725.6(DDX59):c.1077A>G (p.Leu359=)	DDX59	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1220834	NM_001031725.6(DDX59):c.1062+191C>T	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1400553	NM_001031725.6(DDX59):c.1062+9del	DDX59	Deletion (intron variant)	not provided	GLikely benign
Select item 2271334	NM_001031725.6(DDX59):c.1039G>A (p.Val347Ile)	DDX59 (V347I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1291100	NM_001031725.6(DDX59):c.972+157G>A	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221113	NM_001031725.6(DDX59):c.972+150_972+151del	DDX59	Deletion (intron variant)	not provided	GBenign
Select item 1274109	NM_001031725.6(DDX59):c.972+87A>G	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285814	NM_001031725.6(DDX59):c.972+81T>C	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714101	NM_001031725.6(DDX59):c.966T>C (p.His322=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1352108	NM_001031725.6(DDX59):c.953G>A (p.Arg318His)	DDX59 (R318H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2268563	NM_001031725.6(DDX59):c.952C>T (p.Arg318Cys)	DDX59 (R318C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775059	NM_001031725.6(DDX59):c.946C>A (p.Leu316Ile)	DDX59 (L316I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1914717	NM_001031725.6(DDX59):c.937C>T (p.Pro313Ser)	DDX59 (P313S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672376	NM_001031725.6(DDX59):c.919G>A (p.Val307Ile)	DDX59 (V307I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 761541	NM_001031725.6(DDX59):c.915T>G (p.Leu305=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3081184	NM_001031725.6(DDX59):c.905A>G (p.Lys302Arg)	DDX59 (K302R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3081183	NM_001031725.6(DDX59):c.898C>T (p.Arg300Cys)	DDX59 (R300C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3006203	NM_001031725.6(DDX59):c.880T>C (p.Leu294=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700205	NM_001031725.6(DDX59):c.805-8C>A	DDX59	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769652	NM_001031725.6(DDX59):c.804+1G>A	DDX59	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1491587	NM_001031725.6(DDX59):c.802G>A (p.Glu268Lys)	DDX59 (E268K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1602421	NM_001031725.6(DDX59):c.801C>T (p.Phe267=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2519294	NM_001031725.6(DDX59):c.794C>T (p.Ala265Val)	DDX59 (A265V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1931276	NM_001031725.6(DDX59):c.787A>G (p.Met263Val)	DDX59 (M263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416847	NM_001031725.6(DDX59):c.764C>T (p.Ala255Val)	DDX59 (A255V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715869	NM_001031725.6(DDX59):c.753A>G (p.Ser251=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 637029	NM_001031725.6(DDX59):c.751T>C (p.Ser251Pro)	DDX59 (S251P)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome V	GUncertain significance
Select item 3271391	NM_001031725.6(DDX59):c.724G>A (p.Asp242Asn)	DDX59 (D242N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639727	NM_001031725.6(DDX59):c.696G>A (p.Gln232=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974896	NM_001031725.6(DDX59):c.669T>C (p.Tyr223=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692843	NM_001031725.6(DDX59):c.621T>C (p.His207=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2295726	NM_001031725.6(DDX59):c.581A>G (p.Gln194Arg)	DDX59 (Q194R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353965	NM_001031725.6(DDX59):c.536A>G (p.Glu179Gly)	DDX59 (E179G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1472009	NM_001031725.6(DDX59):c.511C>T (p.His171Tyr)	DDX59 (H171Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727200	NM_001031725.6(DDX59):c.497A>G (p.Tyr166Cys)	DDX59 (Y166C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2008692	NM_001031725.6(DDX59):c.454C>T (p.Gln152Ter)	DDX59 (Q152*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2218204	NM_001031725.6(DDX59):c.450T>G (p.Asn150Lys)	DDX59 (N150K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189479	NM_001031725.6(DDX59):c.405TCT[1] (p.Leu137del)	DDX59 (L137del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1595413	NM_001031725.6(DDX59):c.409C>G (p.Leu137Val)	DDX59 (L137V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1678257	NM_001031725.6(DDX59):c.386T>G (p.Leu129Trp)	DDX59 (L129W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709174	NM_001031725.6(DDX59):c.361A>G (p.Lys121Glu)	DDX59 (K121E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530753	NM_001031725.6(DDX59):c.319A>G (p.Ile107Val)	DDX59 (I107V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1530773	NM_001031725.6(DDX59):c.309A>G (p.Pro103=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1948921	NM_001031725.6(DDX59):c.296G>A (p.Arg99His)	DDX59 (R99H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2250532	NM_001031725.6(DDX59):c.267G>T (p.Glu89Asp)	DDX59 (E89D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1259035	NM_001031725.6(DDX59):c.252C>T (p.Ser84=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770684	NM_001031725.6(DDX59):c.251G>C (p.Ser84Thr)	DDX59 (S84T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3081181	NM_001031725.6(DDX59):c.242C>T (p.Ala81Val)	DDX59 (A81V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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