"Ambry Genetics"[submitter] AND "IVD"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2188208	NM_002225.5(IVD):c.34G>A (p.Val12Met)	IVD (V12M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985745	NM_002225.5(IVD):c.137A>T (p.Gln46Leu)	IVD (Q46L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2313700	NM_002225.5(IVD):c.145C>A (p.Leu49Ile)	IVD (L33I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 370843	NM_002225.5(IVD):c.149G>A (p.Arg50His)	IVD (R50H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 459928	NM_002225.5(IVD):c.408G>C (p.Gln136His)	IVD (Q106H +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2621364	NM_002225.5(IVD):c.437A>G (p.Lys146Arg)	IVD (K130R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 203791	NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)	IVD	Microsatellite (inframe_insertion +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2298172	NM_002225.5(IVD):c.475A>G (p.Ile159Val)	IVD (I159V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228292	NM_002225.5(IVD):c.504T>G (p.Asn168Lys)	IVD (N152K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 372389	NM_002225.5(IVD):c.550+1G>A	IVD	Single nucleotide variant (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 661781	NM_002225.5(IVD):c.796C>G (p.Leu266Val)	IVD (L236V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 989795	NM_002225.5(IVD):c.803A>G (p.His268Arg)	IVD (H238R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 555453	NM_002225.5(IVD):c.851G>A (p.Arg284Gln)	IVD (R313Q +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 100060	NM_002225.5(IVD):c.932C>T (p.Ala311Val)	IVD (A281V +3 more)	Single nucleotide variant (missense variant +1 more)	IVD-related condition +3 more	GPathogenic
Select item 507082	NM_002225.5(IVD):c.961T>C (p.Leu321=)	IVD	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2169400	NM_002225.5(IVD):c.995G>A (p.Arg332His)	IVD (R302H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 315802	NM_002225.5(IVD):c.1001T>C (p.Met334Thr)	IVD (M304T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 529434	NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)	IVD (R395Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity