ClinVar for MedGen (Select 358131) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1332918	NM_001031725.6(DDX59):c.1859G>T (p.Ter620Leu)	DDX59	Single nucleotide variant (stop lost +1 more)	Orofaciodigital syndrome V	GPathogenic
Select item 1299500	NM_001031725.6(DDX59):c.1597-6T>G	DDX59	Single nucleotide variant (intron variant)	Orofaciodigital syndrome V	GLikely pathogenic
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 1231036	NM_001031725.6(DDX59):c.1314+23A>G	DDX59	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1033220	NM_001031725.6(DDX59):c.27C>G (p.Ile9Met)	DDX59 (I9M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 801603	NM_001031725.6(DDX59):c.185del (p.Phe62fs)	DDX59 (F62fs)	Deletion (frameshift variant)	Orofaciodigital syndrome V	GPathogenic
Select item 800916	NM_001031725.6(DDX59):c.1648AAT[2] (p.Asn552del)	DDX59 (N438del +4 more)	Microsatellite (inframe_deletion +1 more)	Orofaciodigital syndrome V	GLikely pathogenic
Select item 637029	NM_001031725.6(DDX59):c.751T>C (p.Ser251Pro)	DDX59 (S251P)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome V	GUncertain significance
Select item 88654	NM_001031725.6(DDX59):c.1600G>A (p.Gly534Arg)	DDX59 (G534R +4 more)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome V	GUncertain significance
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