DDX31[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	PAEP, PIERCE1 +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 2470106	NM_022779.9(DDX31):c.2234A>G (p.Lys745Arg)	DDX31 (K745R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531469	NM_022779.9(DDX31):c.2219G>A (p.Ser740Asn)	DDX31 (S667N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080997	NM_022779.9(DDX31):c.2150C>T (p.Pro717Leu)	DDX31 (P693L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517576	NM_022779.9(DDX31):c.2102A>G (p.Asn701Ser)	DDX31 (N710S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659658	NM_022779.9(DDX31):c.2085C>G (p.Ala695=)	DDX31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3080995	NM_022779.9(DDX31):c.2018A>G (p.Gln673Arg)	DDX31 (Q682R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256418	NM_022779.9(DDX31):c.1981G>A (p.Ala661Thr)	DDX31 (A589T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399720	NM_022779.9(DDX31):c.1955G>C (p.Ser652Thr)	DDX31 (S579T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385554	NM_022779.9(DDX31):c.1795A>G (p.Ser599Gly)	DDX31 (S527G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246247	NM_022779.9(DDX31):c.1769C>T (p.Thr590Met)	DDX31 (T599M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364507	NM_022779.9(DDX31):c.1751G>A (p.Arg584Gln)	DDX31 (R512Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592909	NM_022779.9(DDX31):c.1679A>G (p.Asp560Gly)	DDX31 (D560G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515451	NM_022779.9(DDX31):c.1529G>A (p.Arg510Gln)	DDX31 (R486Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362972	NM_022779.9(DDX31):c.1528C>T (p.Arg510Trp)	DDX31 (R438W +3 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2316559	NM_022779.9(DDX31):c.1384A>G (p.Arg462Gly)	DDX31 (R462G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080991	NM_022779.9(DDX31):c.1352T>C (p.Leu451Pro)	DDX31 (L379P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080990	NM_022779.9(DDX31):c.1309G>A (p.Ala437Thr)	DDX31 (A365T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602679	NM_022779.9(DDX31):c.1307C>T (p.Pro436Leu)	DDX31 (P412L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272289	NM_022779.9(DDX31):c.1198T>C (p.Cys400Arg)	DDX31 (C328R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080989	NM_022779.9(DDX31):c.1178C>T (p.Ala393Val)	DDX31 (A321V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305957	NM_022779.9(DDX31):c.1114A>G (p.Ile372Val)	DDX31 (I348V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080988	NM_022779.9(DDX31):c.1093G>A (p.Asp365Asn)	DDX31 (D341N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525737	NM_022779.9(DDX31):c.1036G>A (p.Asp346Asn)	DDX31 (D274N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406909	NM_022779.9(DDX31):c.989T>C (p.Ile330Thr)	DDX31 (I258T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488447	NM_022779.9(DDX31):c.977G>A (p.Arg326Gln)	DDX31 (R335Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266276	NM_022779.9(DDX31):c.976C>T (p.Arg326Trp)	DDX31 (R254W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238481	NM_022779.9(DDX31):c.916G>A (p.Ala306Thr)	DDX31 (A315T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303741	NM_022779.9(DDX31):c.905A>G (p.Asn302Ser)	DDX31 (N230S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387747	NM_022779.9(DDX31):c.832C>T (p.Arg278Trp)	DDX31 (R254W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304556	NM_022779.9(DDX31):c.745C>T (p.Arg249Cys)	DDX31 (R258C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349520	NM_022779.9(DDX31):c.619G>A (p.Val207Met)	DDX31 (V135M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213326	NM_022779.9(DDX31):c.571A>G (p.Met191Val)	DDX31 (M200V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607758	NM_022779.9(DDX31):c.425C>T (p.Thr142Met)	DDX31 (T118M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323808	NM_022779.9(DDX31):c.385G>C (p.Glu129Gln)	DDX31 (E105Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081003	NM_022779.9(DDX31):c.382C>T (p.His128Tyr)	DDX31 (H128Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081002	NM_022779.9(DDX31):c.239C>T (p.Ser80Leu)	DDX31 (S56L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2277335	NM_022779.9(DDX31):c.176T>A (p.Val59Asp)	DDX31 (V35D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081001	NM_022779.9(DDX31):c.170C>G (p.Thr57Ser)	DDX31 (T57S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241514	NM_022779.9(DDX31):c.141C>A (p.Asn47Lys)	DDX31 (N47K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549715	NM_022779.9(DDX31):c.134G>A (p.Arg45Gln)	DDX31 (R21Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377333	NM_022779.9(DDX31):c.107C>T (p.Ala36Val)	DDX31 (A12V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392954	NM_022779.9(DDX31):c.-15T>A	DDX31	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474260	NM_022779.9(DDX31):c.-29T>G	DDX31	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080999	NM_022779.9(DDX31):c.-32C>G	DDX31	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080998	NM_022779.8(DDX31):c.247C>G (p.Arg83Gly)	DDX31 (R83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080996	NM_022779.8(DDX31):c.238C>T (p.Arg80Cys)	DDX31 (R80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080993	NM_022779.8(DDX31):c.192C>A (p.Ser64Arg)	DDX31, GTF3C4 (S64R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595754	NM_022779.8(DDX31):c.179C>A (p.Thr60Lys)	DDX31, GTF3C4 (T60K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211795	NM_022779.8(DDX31):c.77C>A (p.Pro26Gln)	DDX31, GTF3C4 (P26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063120	GRCh37/hg19 9q34.13(chr9:135056358-135636431)x1	AK8, BARHL1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685367	GRCh37/hg19 9q34.13(chr9:135469154-135717772)x1	AK8, DDX31 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GUncertain significance
Select item 1808330	GRCh37/hg19 9q34.13-34.2(chr9:135354006-135950908)x3	BARHL1, CEL +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	GTF3C4, GTF3C5 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 563636	GRCh37/hg19 9q34.13(chr9:135056357-135568321)x3	CFAP77, DDX31 +5 more	Copy number gain	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	CAMSAP1, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 86