"Genome-Nilou Lab"[submitter] AND "IVD"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94053	NM_002225.5(IVD):c.234+14T>C	IVD (V83A)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 1177538	NM_002225.5(IVD):c.457-120C>T	IVD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 197740	NM_002225.5(IVD):c.550+57A>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 1199325	NM_002225.5(IVD):c.607G>C (p.Asp203His)	IVD (D173H +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1177540	NM_002225.5(IVD):c.688-85A>G	IVD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 258591	NM_002225.5(IVD):c.688-31T>C	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 94057	NM_002225.5(IVD):c.723C>T (p.Asp241=)	IVD	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1199324	NM_002225.5(IVD):c.813G>A (p.Lys271=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 94058	NM_002225.5(IVD):c.891G>A (p.Ala297=)	IVD	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 258590	NM_002225.5(IVD):c.1065+41A>G	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GBenign