"GeneDx"[submitter] AND "DDX23"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579343	NM_004818.3(DDX23):c.2406G>C (p.Gln802His)	DDX23 (Q802H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313838	NM_004818.3(DDX23):c.2127_2132del (p.Asn709_Leu710del)	DDX23	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 1305256	NM_004818.3(DDX23):c.2131A>G (p.Lys711Glu)	DDX23 (K711E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1701707	NM_004818.3(DDX23):c.1361C>T (p.Thr454Ile)	DDX23 (T454I)	Single nucleotide variant (missense variant)	DDX23-related Neurodevelopmental disorder +1 more	GUncertain significance
Select item 2663207	NM_004818.3(DDX23):c.1307_1312del (p.Glu436_Thr437del)	DDX23	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1710775	NM_004818.3(DDX23):c.1277T>A (p.Leu426Gln)	DDX23 (L426Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252770	NM_004818.3(DDX23):c.1171C>T (p.Arg391Ter)	DDX23 (R391*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2442477	NM_004818.3(DDX23):c.1141A>G (p.Thr381Ala)	DDX23 (T381A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311126	NM_004818.3(DDX23):c.1137C>G (p.Ile379Met)	DDX23 (I379M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580687	NM_004818.3(DDX23):c.1135A>G (p.Ile379Val)	DDX23 (I379V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312741	NM_004818.3(DDX23):c.1060G>A (p.Asp354Asn)	DDX23 (D354N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365572	NM_004818.3(DDX23):c.1032dup (p.Lys345Ter)	DDX23 (K345*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2504840	NM_004818.3(DDX23):c.965A>C (p.Asp322Ala)	DDX23 (D322A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581723	NM_004818.3(DDX23):c.865_866del (p.Leu289fs)	DDX23 (L289fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1698304	NM_004818.3(DDX23):c.697G>A (p.Gly233Arg)	DDX23 (G233R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574858	NM_004818.3(DDX23):c.620-2A>C	DDX23	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2499199	NM_004818.3(DDX23):c.489C>G (p.Phe163Leu)	DDX23 (F163L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722889	NM_004818.3(DDX23):c.481C>T (p.Pro161Ser)	DDX23 (P161S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377838	NM_004818.3(DDX23):c.353C>A (p.Ser118Tyr)	DDX23 (S118Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321520	NM_004818.3(DDX23):c.323T>C (p.Leu108Ser)	DDX23 (L108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506699	NM_004818.3(DDX23):c.298G>A (p.Asp100Asn)	DDX23 (D100N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252258	NM_004818.3(DDX23):c.268C>T (p.Arg90Ter)	DDX23 (R90*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3371307	NM_004818.3(DDX23):c.245A>C (p.Glu82Ala)	DDX23 (E82A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810684	NM_004818.3(DDX23):c.228ACGAGA[3] (p.Arg79_Asp80insGluArg)	DDX23	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1311907	NM_004818.3(DDX23):c.228ACGAGA[1] (p.76ER[1])	DDX23	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3360916	NM_004818.3(DDX23):c.7G>C (p.Gly3Arg)	DDX23 (G3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360659	NM_004818.3(DDX23):c.1249A>C (p.Ile417Leu)	DDX23 (I417L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 27