DDX39A[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 2292532	NM_005804.4(DDX39A):c.1270G>A (p.Glu424Lys)	DDX39A (E424K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558002	NM_005804.4(DDX39A):c.1252G>A (p.Asp418Asn)	DDX39A (D418N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230013	NM_005804.4(DDX39A):c.943G>A (p.Ala315Thr)	DDX39A (A315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490220	NM_005804.4(DDX39A):c.940A>G (p.Ile314Val)	DDX39A (I314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081008	NM_005804.4(DDX39A):c.935C>T (p.Pro312Leu)	DDX39A (P312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569325	NM_005804.4(DDX39A):c.823C>T (p.Arg275Cys)	DDX39A (R275C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554723	NM_005804.4(DDX39A):c.706C>G (p.Pro236Ala)	DDX39A (P236A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 191100	NM_005804.4(DDX39A):c.677T>A (p.Phe226Tyr)	DDX39A (F226Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3081007	NM_005804.4(DDX39A):c.637A>G (p.Ile213Val)	DDX39A (I213V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081006	NM_005804.4(DDX39A):c.623G>A (p.Arg208Gln)	DDX39A (R208Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081005	NM_005804.4(DDX39A):c.606G>T (p.Glu202Asp)	DDX39A (E202D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216166	NM_005804.4(DDX39A):c.539G>A (p.Arg180Gln)	DDX39A (R180Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081004	NM_005804.4(DDX39A):c.490T>C (p.Cys164Arg)	DDX39A (C164R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299014	NM_005804.4(DDX39A):c.112T>C (p.Tyr38His)	DDX39A (Y38H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243386	NM_005804.4(DDX39A):c.72G>T (p.Glu24Asp)	DDX39A (E24D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710141	NM_005804.4(DDX39A):c.45A>G (p.Glu15=)	DDX39A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 33