ClinVar for Gene (Select 8886) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3271257	NM_006773.4(DDX18):c.598A>G (p.Thr200Ala)	DDX18 (T200A)	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 3271254	NM_006773.4(DDX18):c.1070G>A (p.Arg357His)	DDX18 (R357H)	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 3080905	NM_006773.4(DDX18):c.601A>G (p.Asn201Asp)	DDX18 (N201D)	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 3080903	NM_006773.4(DDX18):c.466A>T (p.Asn156Tyr)	DDX18 (N156Y)	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 3080901	NM_006773.4(DDX18):c.391G>C (p.Glu131Gln)	DDX18 (E131Q)	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 3080898	NM_006773.4(DDX18):c.1418A>G (p.Asn473Ser)	DDX18 (N473S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2651293	NM_006773.4(DDX18):c.1215T>C (p.Val405=)	DDX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651292	NM_006773.4(DDX18):c.834C>T (p.His278=)	DDX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2610393	NM_006773.4(DDX18):c.14C>T (p.Pro5Leu)	DDX18, LOC112806040 (P5L)	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 2592658	NM_006773.4(DDX18):c.88G>T (p.Ala30Ser)	DDX18 (A30S)	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 2521070	NM_006773.4(DDX18):c.754A>C (p.Thr252Pro)	DDX18 (T252P)	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 2491605	NM_006773.4(DDX18):c.793A>G (p.Met265Val)	DDX18 (M265V)	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 2458544	NM_006773.4(DDX18):c.1592G>A (p.Arg531His)	DDX18 (R531H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2385241	NM_006773.4(DDX18):c.284A>G (p.Asn95Ser)	DDX18 (N95S)	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 2299679	NM_006773.4(DDX18):c.2001G>C (p.Gln667His)	DDX18 (Q667H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2295384	NM_006773.4(DDX18):c.1713G>C (p.Lys571Asn)	DDX18 (K571N)	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 2234233	NM_006773.4(DDX18):c.739A>G (p.Met247Val)	DDX18 (M247V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 786731	NM_006773.4(DDX18):c.1111G>A (p.Val371Ile)	DDX18 (V371I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786730	NM_006773.4(DDX18):c.548G>A (p.Cys183Tyr)	DDX18 (C183Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780022	NM_006773.4(DDX18):c.1551C>G (p.Ala517=)	DDX18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717174	NM_006773.4(DDX18):c.1860C>T (p.Phe620=)	DDX18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717173	NM_006773.4(DDX18):c.1302T>C (p.Ser434=)	DDX18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717172	NM_006773.4(DDX18):c.751+10C>G	DDX18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717171	NM_006773.4(DDX18):c.424G>A (p.Glu142Lys)	DDX18 (E142K)	Single nucleotide variant (missense variant)	not provided	GBenign
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
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 58