DDX10[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 777859	NM_004398.4(DDX10):c.131C>G (p.Pro44Arg)	DDX10 (P44R)	Single nucleotide variant (missense variant)	DDX10-related disorder +1 more	GBenign/Likely benign
Select item 3049135	NM_004398.4(DDX10):c.240A>G (p.Thr80=)	DDX10, LOC106865368	Single nucleotide variant (synonymous variant)	DDX10-related disorder	GLikely benign
Select item 2525122	NM_004398.4(DDX10):c.296C>T (p.Thr99Ile)	DDX10, LOC106865368 (T99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041086	NM_004398.4(DDX10):c.378+7A>G	DDX10, LOC106865368	Single nucleotide variant (intron variant)	DDX10-related disorder	GBenign
Select item 3080864	NM_004398.4(DDX10):c.387A>C (p.Glu129Asp)	DDX10, LOC106865368 (E129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080865	NM_004398.4(DDX10):c.398G>A (p.Arg133His)	DDX10, LOC106865368 (R133H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284063	NM_004398.4(DDX10):c.446C>G (p.Pro149Arg)	DDX10, LOC106865368 (P149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376196	NM_004398.4(DDX10):c.478G>T (p.Val160Phe)	DDX10, LOC106865368 (V160F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354438	NM_004398.4(DDX10):c.602T>G (p.Leu201Arg)	DDX10, LOC106865368 (L201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275417	NM_004398.4(DDX10):c.691G>C (p.Gly231Arg)	DDX10, LOC106865368 (G231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490056	NM_004398.4(DDX10):c.736A>G (p.Lys246Glu)	DDX10, LOC106865368 (K246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080866	NM_004398.4(DDX10):c.739C>T (p.Arg247Cys)	DDX10, LOC106865368 (R247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790363	NM_004398.4(DDX10):c.846T>C (p.Tyr282=)	DDX10, LOC106865368	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2388734	NM_004398.4(DDX10):c.947G>A (p.Ser316Asn)	DDX10 (S316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526900	NM_004398.4(DDX10):c.986T>G (p.Leu329Arg)	DDX10 (L329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399326	NM_004398.4(DDX10):c.1010G>A (p.Arg337His)	DDX10 (R337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208875	NM_004398.4(DDX10):c.1100C>T (p.Ala367Val)	DDX10 (A367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080853	NM_004398.4(DDX10):c.1121T>C (p.Ile374Thr)	DDX10 (I374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037106	NM_004398.4(DDX10):c.1139-4G>A	DDX10	Single nucleotide variant (intron variant)	DDX10-related disorder	GLikely benign
Select item 2525316	NM_004398.4(DDX10):c.1170T>G (p.Phe390Leu)	DDX10 (F390L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679739	Single allele	DDX10, LOC130006712	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 218632	NM_004398.4(DDX10):c.1334A>G (p.Glu445Gly)	DDX10 (E445G)	Single nucleotide variant (missense variant)	DDX10-related disorder +1 more	GBenign/Likely benign
Select item 2458947	NM_004398.4(DDX10):c.1343T>C (p.Ile448Thr)	DDX10 (I448T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080854	NM_004398.4(DDX10):c.1424A>G (p.Tyr475Cys)	DDX10 (Y475C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790364	NM_004398.4(DDX10):c.1563C>T (p.Thr521=)	DDX10	Single nucleotide variant (synonymous variant)	DDX10-related disorder +1 more	GBenign/Likely benign
Select item 2261533	NM_004398.4(DDX10):c.1566A>T (p.Lys522Asn)	DDX10 (K522N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679740	NM_004398.4(DDX10):c.1609G>A (p.Ala537Thr)	DDX10 (A537T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2226496	NM_004398.4(DDX10):c.1613C>T (p.Pro538Leu)	DDX10 (P538L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400824	NM_004398.4(DDX10):c.1616C>G (p.Ser539Cys)	DDX10 (S539C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332995	NM_004398.4(DDX10):c.1645A>G (p.Arg549Gly)	DDX10 (R549G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528240	NM_004398.4(DDX10):c.1687G>A (p.Gly563Arg)	DDX10 (G563R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037141	NM_004398.4(DDX10):c.1698C>T (p.Leu566=)	DDX10	Single nucleotide variant (synonymous variant)	DDX10-related disorder	GBenign
Select item 3040175	NM_004398.4(DDX10):c.1723A>G (p.Asn575Asp)	DDX10 (N575D)	Single nucleotide variant (missense variant)	DDX10-related disorder	GBenign
Select item 3040076	NM_004398.4(DDX10):c.1749AGA[3] (p.Glu586del)	DDX10 (E586del)	Microsatellite (inframe deletion)	DDX10-related disorder	GLikely benign
Select item 3057636	NM_004398.4(DDX10):c.1761C>T (p.Asp587=)	DDX10	Single nucleotide variant (synonymous variant)	DDX10-related disorder	GLikely benign
Select item 2273557	NM_004398.4(DDX10):c.1784A>G (p.Lys595Arg)	DDX10 (K595R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318406	NM_004398.4(DDX10):c.1796C>G (p.Ala599Gly)	DDX10 (A599G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248446	NM_004398.4(DDX10):c.1817C>A (p.Ser606Tyr)	DDX10 (S606Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080856	NM_004398.4(DDX10):c.1823C>T (p.Pro608Leu)	DDX10 (P608L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080857	NM_004398.4(DDX10):c.1831A>T (p.Ser611Cys)	DDX10 (S611C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080858	NM_004398.4(DDX10):c.1900G>A (p.Asp634Asn)	DDX10 (D634N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389328	NM_004398.4(DDX10):c.1918C>T (p.Arg640Trp)	DDX10 (R640W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378543	NM_004398.4(DDX10):c.1919G>A (p.Arg640Gln)	DDX10 (R640Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356625	NM_004398.4(DDX10):c.1924A>G (p.Asn642Asp)	DDX10 (N642D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080859	NM_004398.4(DDX10):c.1933G>C (p.Gly645Arg)	DDX10 (G645R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043585	NM_004398.4(DDX10):c.1964A>G (p.Gln655Arg)	DDX10 (Q655R)	Single nucleotide variant (missense variant)	DDX10-related disorder	GLikely benign
Select item 3080860	NM_004398.4(DDX10):c.1975C>A (p.Pro659Thr)	DDX10 (P659T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378526	NM_004398.4(DDX10):c.1978T>C (p.Ser660Pro)	DDX10 (S660P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357533	NM_004398.4(DDX10):c.2122A>G (p.Ile708Val)	DDX10 (I708V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390976	NM_004398.4(DDX10):c.2147A>G (p.Asp716Gly)	DDX10 (D716G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080861	NM_004398.4(DDX10):c.2257C>G (p.Leu753Val)	DDX10 (L753V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594070	NM_004398.4(DDX10):c.2271A>C (p.Glu757Asp)	DDX10 (E757D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335340	NM_004398.4(DDX10):c.2303A>G (p.Lys768Arg)	DDX10 (K768R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080862	NM_004398.4(DDX10):c.2332G>T (p.Asp778Tyr)	DDX10 (D778Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385330	NM_004398.4(DDX10):c.2345A>T (p.Asp782Val)	DDX10 (D782V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049863	NM_004398.4(DDX10):c.2505C>T (p.Asp835=)	DDX10	Single nucleotide variant (synonymous variant)	DDX10-related disorder	GLikely benign
Select item 3045017	NM_004398.4(DDX10):c.2514A>G (p.Pro838=)	DDX10	Single nucleotide variant (synonymous variant)	DDX10-related disorder	GBenign
Select item 2291679	NM_004398.4(DDX10):c.2533A>G (p.Lys845Glu)	DDX10 (K845E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291680	NM_004398.4(DDX10):c.2534A>C (p.Lys845Thr)	DDX10 (K845T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321066	NM_004398.4(DDX10):c.2552T>C (p.Leu851Ser)	DDX10 (L851S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080863	NM_004398.4(DDX10):c.2615G>C (p.Arg872Thr)	DDX10 (R872T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341263	GRCh37/hg19 11q22.3(chr11:108396397-108634952)x3	DDX10, EXPH5	Copy number gain	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 687555	GRCh37/hg19 11q22.3(chr11:108558716-109047664)x1	DDX10	Copy number loss	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563859	GRCh37/hg19 11q22.3(chr11:108067009-108861566)x3	C11orf65, EXPH5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic

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Items: 80