"Illumina Laboratory Services, Illumina"[submitter] AND "DDX3X"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627924	NM_001356.5(DDX3X):c.584T>C (p.Ile195Thr)	DDX3X (I179T +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3062043	NM_001356.5(DDX3X):c.1135_1136del (p.Met379fs)	DDX3X (M193fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 2573016	NM_001356.5(DDX3X):c.1250A>G (p.Gln417Arg)	DDX3X (Q231R +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3062159	NM_001356.5(DDX3X):c.1292T>G (p.Leu431Arg)	DDX3X (L245R +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3062097	NM_001356.5(DDX3X):c.1461C>G (p.Phe487Leu)	DDX3X (F301L +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1328123	NM_001356.5(DDX3X):c.1492A>G (p.Thr498Ala)	DDX3X (T312A +2 more)	Single nucleotide variant (missense variant +1 more)	DDX3X-related X-linked intellectual disability	GLikely pathogenic
Select item 421228	NM_001356.5(DDX3X):c.1676T>A (p.Leu559His)	DDX3X (L559H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic