C0268575[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324601	NM_002225.5(IVD):c.122G>A (p.Gly41Glu)	IVD (G41E)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2440925	NM_002225.5(IVD):c.149G>T (p.Arg50Leu)	IVD (R34L +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1324602	NM_002225.5(IVD):c.254G>A (p.Gly85Glu)	IVD (G114E +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2084688	NM_002225.5(IVD):c.265G>A (p.Val89Ile)	IVD (V59I +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 94055	NM_002225.5(IVD):c.456+2T>C	IVD	Single nucleotide variant (splice donor variant)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 432172	NM_002225.5(IVD):c.466G>A (p.Gly156Ser)	IVD (G156S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 459930	NM_002225.5(IVD):c.618del (p.Ile206fs)	IVD (I176fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203792	NM_002225.5(IVD):c.890C>T (p.Ala297Val)	IVD (A297V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 100060	NM_002225.5(IVD):c.932C>T (p.Ala311Val)	IVD (A281V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 2440918	NM_002225.5(IVD):c.940C>T (p.Gln314Ter)	IVD (Q284* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2432937	NM_002225.5(IVD):c.1165C>A (p.Pro389Thr)	IVD (P359T +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 571005	NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)	IVD (R395* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic