C0268575[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1725628	NM_002225.5(IVD):c.263del (p.Gly88fs)	IVD (G117fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1725997	NM_002225.5(IVD):c.272del (p.Gly91fs)	IVD (G120fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1726051	NM_002225.5(IVD):c.433C>T (p.Gln145Ter)	IVD (Q115* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1726225	NM_002225.5(IVD):c.439G>T (p.Glu147Ter)	IVD (E117* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1724807	NM_002225.5(IVD):c.442A>T (p.Lys148Ter)	IVD (K118* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 203791	NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)	IVD	Microsatellite (inframe_insertion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1725362	NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)	IVD (K152fs +3 more)	Indel (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1723958	NM_002225.5(IVD):c.634_635del (p.Asp212fs)	IVD (D182fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1726528	NM_002225.5(IVD):c.640_641del (p.Ala214fs)	IVD (A184fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1724852	NM_002225.5(IVD):c.693dup (p.Pro232fs)	IVD (P202fs +3 more)	Duplication (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1724645	NM_002225.5(IVD):c.715A>T (p.Lys239Ter)	IVD (K209* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1725138	NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)	IVD (G242fs +3 more)	Insertion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 100060	NM_002225.5(IVD):c.932C>T (p.Ala311Val)	IVD (A281V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1724292	NM_002225.5(IVD):c.958C>T (p.Gln320Ter)	IVD (Q290* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic