DDX23[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 2664152	NM_004818.3(DDX23):c.2437C>T (p.Arg813Cys)	DDX23 (R813C)	Single nucleotide variant (missense variant)	Congenital bilateral perisylvian syndrome	GLikely pathogenic
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 3271275	NM_004818.3(DDX23):c.2328C>A (p.Phe776Leu)	DDX23 (F776L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279550	NM_004818.3(DDX23):c.2302C>T (p.Leu768Phe)	DDX23 (L768F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239574	NM_004818.3(DDX23):c.2284G>A (p.Gly762Arg)	DDX23 (G762R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 862674	NM_004818.3(DDX23):c.2264C>T (p.Thr755Met)	DDX23 (T755M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3031909	NM_004818.3(DDX23):c.2191C>G (p.Gln731Glu)	DDX23 (Q731E)	Single nucleotide variant (missense variant)	DDX23-related disorder	GUncertain significance
Select item 2289154	NM_004818.3(DDX23):c.2182A>G (p.Ile728Val)	DDX23 (I728V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2401507	NM_004818.3(DDX23):c.2128C>T (p.Leu710Phe)	DDX23 (L710F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540115	NM_004818.3(DDX23):c.2069A>G (p.Asn690Ser)	DDX23 (N690S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699432	NM_004818.3(DDX23):c.1912C>T (p.Arg638Cys)	DDX23 (R638C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 982316	NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser)	DDX23 (I629S)	Single nucleotide variant (missense variant)	Fetal growth restriction +4 more	GConflicting classifications of pathogenicity
Select item 3239471	NM_004818.3(DDX23):c.1876G>A (p.Val626Met)	DDX23 (V626M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982314	NM_004818.3(DDX23):c.1812G>T (p.Met604Ile)	DDX23 (M604I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3069207	NM_004818.3(DDX23):c.1722C>A (p.Asn574Lys)	DDX23 (N574K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 982312	NM_004818.3(DDX23):c.1646A>T (p.Asp549Val)	DDX23 (D549V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2467136	NM_004818.3(DDX23):c.1585T>G (p.Leu529Val)	DDX23 (L529V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 982315	NM_004818.3(DDX23):c.1583G>A (p.Arg528His)	DDX23 (R528H)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 982313	NM_004818.3(DDX23):c.1582C>T (p.Arg528Cys)	DDX23 (R528C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2209372	NM_004818.3(DDX23):c.1481C>T (p.Pro494Leu)	DDX23 (P494L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244857	NM_004818.3(DDX23):c.1386C>G (p.Ile462Met)	DDX23 (I462M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3080939	NM_004818.3(DDX23):c.1285C>T (p.Arg429Cys)	DDX23 (R429C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3080938	NM_004818.3(DDX23):c.1180A>G (p.Lys394Glu)	DDX23 (K394E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3271274	NM_004818.3(DDX23):c.1097C>T (p.Thr366Met)	DDX23 (T366M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732990	NM_004818.3(DDX23):c.1089T>C (p.Asp363=)	DDX23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2386377	NM_004818.3(DDX23):c.1073C>G (p.Ser358Cys)	DDX23 (S358C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2512727	NM_004818.3(DDX23):c.1031G>A (p.Arg344His)	DDX23 (R344H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3030327	NM_004818.3(DDX23):c.952C>T (p.Arg318Cys)	DDX23 (R318C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521063	NM_004818.3(DDX23):c.894G>T (p.Leu298Phe)	DDX23 (L298F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505278	NM_004818.3(DDX23):c.877C>T (p.Arg293Trp)	DDX23 (R293W)	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 2576074	NM_004818.3(DDX23):c.779A>G (p.Lys260Arg)	DDX23 (K260R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474140	NM_004818.3(DDX23):c.723G>C (p.Lys241Asn)	DDX23 (K241N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2290804	NM_004818.3(DDX23):c.643C>T (p.Arg215Trp)	DDX23 (R215W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3080945	NM_004818.3(DDX23):c.560T>C (p.Met187Thr)	DDX23 (M187T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080944	NM_004818.3(DDX23):c.534G>T (p.Gln178His)	DDX23 (Q178H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3254977	NM_004818.3(DDX23):c.480+2T>C	DDX23	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2391947	NM_004818.3(DDX23):c.472G>A (p.Glu158Lys)	DDX23 (E158K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374525	NM_004818.3(DDX23):c.416C>G (p.Ala139Gly)	DDX23 (A139G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2259990	NM_004818.3(DDX23):c.314G>A (p.Arg105Gln)	DDX23 (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2511118	NM_004818.3(DDX23):c.295C>T (p.Arg99Trp)	DDX23 (R99W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318551	NM_004818.3(DDX23):c.275G>A (p.Arg92Gln)	DDX23 (R92Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2471220	NM_004818.3(DDX23):c.251A>T (p.Asp84Val)	DDX23 (D84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556396	NM_004818.3(DDX23):c.247C>T (p.Arg83Trp)	DDX23 (R83W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3080942	NM_004818.3(DDX23):c.215G>A (p.Arg72Gln)	DDX23 (R72Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080941	NM_004818.3(DDX23):c.190C>T (p.Arg64Cys)	DDX23 (R64C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2320573	NM_004818.3(DDX23):c.157C>G (p.Arg53Gly)	DDX23 (R53G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080940	NM_004818.3(DDX23):c.152A>T (p.Asp51Val)	DDX23 (D51V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516867	NM_004818.3(DDX23):c.142C>T (p.Arg48Cys)	DDX23 (R48C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303328	NM_004818.3(DDX23):c.137G>A (p.Arg46Gln)	DDX23 (R46Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467538	NM_004818.3(DDX23):c.106C>T (p.Arg36Trp)	DDX23 (R36W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3080943	NM_004818.3(DDX23):c.31C>T (p.Arg11Cys)	DDX23 (R11C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553023	NM_004818.3(DDX23):c.8G>C (p.Gly3Ala)	DDX23 (G3A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244281	NC_000012.11:g.(?_49162374)_(49437585_?)dup	ADCY6, ARF3 +10 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 688471	GRCh37/hg19 12q13.11-13.12(chr12:48944713-49265377)x3	KANSL2, LALBA +5 more	Copy number gain	not provided	GUncertain significance
Select item 633775	GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1	ADCY6, ARF3 +13 more	Copy number loss	Kabuki syndrome 1	GPathogenic
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394378	GRCh37/hg19 12q13.11-13.12(chr12:48961450-49255821)x3	ADCY6, CACNB3 +5 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
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
Select item 1676504	NM_004818.3(DDX23):c.1493G>T (p.Arg498Leu)	DDX23 (R498L)	Single nucleotide variant	not provided	GUncertain significance

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: 91