DDX18[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 2610393	NM_006773.4(DDX18):c.14C>T (p.Pro5Leu)	DDX18, LOC112806040 (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080904	NM_006773.4(DDX18):c.56A>G (p.Lys19Arg)	DDX18, LOC112806040 (K19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274778	NM_006773.4(DDX18):c.83A>G (p.Gln28Arg)	DDX18, LOC112806040 (Q28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592658	NM_006773.4(DDX18):c.88G>T (p.Ala30Ser)	DDX18 (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624117	NM_006773.4(DDX18):c.113C>T (p.Thr38Ile)	DDX18 (T38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271255	NM_006773.4(DDX18):c.146G>A (p.Gly49Glu)	DDX18 (G49E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385241	NM_006773.4(DDX18):c.284A>G (p.Asn95Ser)	DDX18 (N95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080901	NM_006773.4(DDX18):c.391G>C (p.Glu131Gln)	DDX18 (E131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080902	NM_006773.4(DDX18):c.420T>A (p.Ser140Arg)	DDX18 (S140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717171	NM_006773.4(DDX18):c.424G>A (p.Glu142Lys)	DDX18 (E142K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3080903	NM_006773.4(DDX18):c.466A>T (p.Asn156Tyr)	DDX18 (N156Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271258	NM_006773.4(DDX18):c.487G>A (p.Val163Met)	DDX18 (V163M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378294	NM_006773.4(DDX18):c.536T>G (p.Phe179Cys)	DDX18 (F179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786730	NM_006773.4(DDX18):c.548G>A (p.Cys183Tyr)	DDX18 (C183Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2298896	NM_006773.4(DDX18):c.556G>C (p.Val186Leu)	DDX18 (V186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271257	NM_006773.4(DDX18):c.598A>G (p.Thr200Ala)	DDX18 (T200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080905	NM_006773.4(DDX18):c.601A>G (p.Asn201Asp)	DDX18 (N201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234233	NM_006773.4(DDX18):c.739A>G (p.Met247Val)	DDX18 (M247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717172	NM_006773.4(DDX18):c.751+10C>G	DDX18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2521070	NM_006773.4(DDX18):c.754A>C (p.Thr252Pro)	DDX18 (T252P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606409	NM_006773.4(DDX18):c.778A>G (p.Thr260Ala)	DDX18 (T260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080906	NM_006773.4(DDX18):c.779C>T (p.Thr260Ile)	DDX18 (T260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491605	NM_006773.4(DDX18):c.793A>G (p.Met265Val)	DDX18 (M265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651292	NM_006773.4(DDX18):c.834C>T (p.His278=)	DDX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3271254	NM_006773.4(DDX18):c.1070G>A (p.Arg357His)	DDX18 (R357H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786731	NM_006773.4(DDX18):c.1111G>A (p.Val371Ile)	DDX18 (V371I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3080897	NM_006773.4(DDX18):c.1162G>A (p.Val388Ile)	DDX18 (V388I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651293	NM_006773.4(DDX18):c.1215T>C (p.Val405=)	DDX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717173	NM_006773.4(DDX18):c.1302T>C (p.Ser434=)	DDX18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2403809	NM_006773.4(DDX18):c.1365T>G (p.Ile455Met)	DDX18 (I455M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080898	NM_006773.4(DDX18):c.1418A>G (p.Asn473Ser)	DDX18 (N473S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780022	NM_006773.4(DDX18):c.1551C>G (p.Ala517=)	DDX18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2458544	NM_006773.4(DDX18):c.1592G>A (p.Arg531His)	DDX18 (R531H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588351	NM_006773.4(DDX18):c.1616G>A (p.Arg539His)	DDX18 (R539H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468694	NM_006773.4(DDX18):c.1703T>G (p.Leu568Trp)	DDX18 (L568W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295384	NM_006773.4(DDX18):c.1713G>C (p.Lys571Asn)	DDX18 (K571N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080899	NM_006773.4(DDX18):c.1828G>T (p.Ala610Ser)	DDX18 (A610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509492	NM_006773.4(DDX18):c.1831C>G (p.Leu611Val)	DDX18 (L611V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717174	NM_006773.4(DDX18):c.1860C>T (p.Phe620=)	DDX18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2299679	NM_006773.4(DDX18):c.2001G>C (p.Gln667His)	DDX18 (Q667H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062627	GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1	C1QL2, C2orf76 +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 1809385	GRCh37/hg19 2q14.1-14.3(chr2:116761476-123897262)x1	C1QL2, C2orf76 +21 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 814296	GRCh37/hg19 2q14.1-14.2(chr2:115416190-122399064)x1	TMEM177, C2orf76 +20 more	Copy number loss	not provided	GPathogenic
Select item 562675	GRCh37/hg19 2q14.1-14.3(chr2:114707932-124328692)x1	STEAP3, PTPN4 +23 more	Copy number loss	not provided	GPathogenic
Select item 562612	GRCh37/hg19 2q14.1-14.2(chr2:118086228-118843437)x3	CCDC93, DDX18	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442443	GRCh37/hg19 2q14.1-14.3(chr2:116754600-123897370)x1	C1QL2, C2orf76 +21 more	Copy number loss	See cases	GPathogenic
Select item 442204	GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1	FOXD4L1, ACTR3 +27 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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Items: 58