Related gene-specific medical variations for Gene (Select 3712) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383111	NM_002225.5(IVD):c.386A>G (p.His129Arg)	IVD (H113R +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3381940	NM_002225.5(IVD):c.1006T>C (p.Cys336Arg)	IVD (C306R +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3243762	NC_000015.9:g.(?_40698020)_(40700209_?)del	IVD	Deletion	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 3243761	NC_000015.9:g.(?_40710309)_(40710462_?)del	IVD	Deletion	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 3241785	NM_002225.5(IVD):c.810del (p.Asn270fs)	IVD (N240fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241784	NM_002225.5(IVD):c.340G>C (p.Glu114Gln)	IVD (E114Q +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3065813	NM_002225.5(IVD):c.872C>T (p.Pro291Leu)	IVD (P261L +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3064929	NM_002225.5(IVD):c.878+5G>A	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2676202	NM_002225.5(IVD):c.1087dup (p.Tyr363fs)	IVD (Y333fs +3 more)	Duplication (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676201	NM_002225.5(IVD):c.878+2T>C	IVD	Single nucleotide variant (splice donor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676200	NM_002225.5(IVD):c.526A>G (p.Met176Val)	IVD (M146V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676199	NM_002225.5(IVD):c.581del (p.Phe194fs)	IVD (F164fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676198	NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer)	IVD	Deletion (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676197	NM_002225.5(IVD):c.928del (p.Glu310fs)	IVD (E280fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676196	NM_002225.5(IVD):c.1066del	IVD	Deletion	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676195	NM_002225.5(IVD):c.394del (p.Leu132fs)	IVD (L102fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676193	NM_002225.5(IVD):c.986T>C (p.Met329Thr)	IVD (M299T +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676192	NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)	IVD (Y127* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676190	NM_002225.5(IVD):c.761_785-762del	IVD	Deletion (splice donor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676189	NM_002225.5(IVD):c.457-2A>C	IVD	Single nucleotide variant (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676188	NM_002225.5(IVD):c.960+1G>A	IVD	Single nucleotide variant (splice donor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676187	NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)	IVD (C306Y +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676186	NM_002225.5(IVD):c.1140del (p.Gly381fs)	IVD (G351fs +3 more)	Deletion (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2676183	NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer)	IVD	Deletion (nonsense +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
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 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 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 989792	NM_002225.5(IVD):c.334A>T (p.Met112Leu)	IVD (M112L +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 989790	NM_002225.5(IVD):c.137A>G (p.Gln46Arg)	IVD (Q46R)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 989789	NM_002225.5(IVD):c.60G>T (p.Pro20=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 635282	NM_002225.5(IVD):c.883A>T (p.Met295Leu)	IVD (M295L +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3565	NM_002225.5(IVD):c.145_234del (p.Leu49_Arg78del)	IVD	Deletion (inframe_deletion +2 more)	Isovaleric acidemia, type II	GPathogenic

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Items: 33