"GeneDx"[submitter] AND "DDX59"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1269466	NM_001031725.6(DDX59):c.1596+34C>A	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255474	NM_001031725.6(DDX59):c.1431A>G (p.Ser477=)	DDX59	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 1220833	NM_001031725.6(DDX59):c.1314+220T>A	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247913	NM_001031725.6(DDX59):c.1314+75G>T	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231036	NM_001031725.6(DDX59):c.1314+23A>G	DDX59	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 88653	NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly)	DDX59 (V367G)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome V +1 more	GPathogenic/Likely pathogenic
Select item 1220834	NM_001031725.6(DDX59):c.1062+191C>T	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291100	NM_001031725.6(DDX59):c.972+157G>A	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221113	NM_001031725.6(DDX59):c.972+150_972+151del	DDX59	Deletion (intron variant)	not provided	GBenign
Select item 1274109	NM_001031725.6(DDX59):c.972+87A>G	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285814	NM_001031725.6(DDX59):c.972+81T>C	DDX59	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1472009	NM_001031725.6(DDX59):c.511C>T (p.His171Tyr)	DDX59 (H171Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678257	NM_001031725.6(DDX59):c.386T>G (p.Leu129Trp)	DDX59 (L129W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259035	NM_001031725.6(DDX59):c.252C>T (p.Ser84=)	DDX59	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1707012	NM_001031725.6(DDX59):c.218A>G (p.His73Arg)	DDX59 (H73R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic