"Ambry Genetics"[submitter] AND "DDX31"[gene] - ClinVar

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Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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

ClinVar

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Items: 48