17347[HGNC] - ClinVar

Search results

Items: 92

	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 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 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

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Items: 92