"Natera, Inc."[submitter] AND "IVD"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315796	NM_002225.5(IVD):c.-48G>A	IVD	Single nucleotide variant	not specified +1 more	GBenign/Likely benign
Select item 284237	NM_002225.5(IVD):c.11C>T (p.Ala4Val)	IVD (A4V)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency +2 more	GLikely benign
Select item 948558	NM_002225.5(IVD):c.17G>A (p.Arg6Gln)	IVD (R6Q)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 753813	NM_002225.5(IVD):c.22C>T (p.Leu8=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 967526	NM_002225.5(IVD):c.52C>T (p.Arg18Trp)	IVD (R18W)	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 258592	NM_002225.5(IVD):c.88C>T (p.His30Tyr)	IVD (H30Y)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 371578	NM_002225.5(IVD):c.102_103del (p.Val35fs)	IVD (V35fs)	Deletion (frameshift variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1093041	NM_002225.5(IVD):c.111T>C (p.Asp37=)	IVD	Single nucleotide variant (synonymous variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
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 370705	NM_002225.5(IVD):c.144+1G>A	IVD	Single nucleotide variant (5 prime UTR variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 648047	NM_002225.5(IVD):c.148C>G (p.Arg50Gly)	IVD (R50G +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3567	NM_002225.5(IVD):c.148C>T (p.Arg50Cys)	IVD (R34C +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 188922	NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	IVD (R50P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 510860	NM_002225.5(IVD):c.150T>A (p.Arg50=)	IVD	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 315797	NM_002225.5(IVD):c.164A>T (p.Lys55Met)	IVD (K55M +1 more)	Single nucleotide variant (missense variant +2 more)	IVD-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 989791	NM_002225.5(IVD):c.202A>G (p.Ile68Val)	IVD (I52V +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 488861	NM_002225.5(IVD):c.228C>T (p.Asn76=)	IVD	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 382411	NM_002225.5(IVD):c.229C>T (p.Leu77=)	IVD	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 459927	NM_002225.5(IVD):c.233G>C (p.Arg78Pro)	IVD (R78P +1 more)	Single nucleotide variant (missense variant +2 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 94053	NM_002225.5(IVD):c.234+14T>C	IVD (V83A)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 382073	NM_002225.5(IVD):c.235-18G>A	IVD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 385437	NM_002225.5(IVD):c.264C>T (p.Gly88=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 646307	NM_002225.5(IVD):c.268T>A (p.Leu90Met)	IVD (L90M +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 203788	NM_002225.5(IVD):c.286+2T>C	IVD	Single nucleotide variant (splice donor variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 552580	NM_002225.5(IVD):c.287-1G>A	IVD	Single nucleotide variant (splice acceptor variant)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 722077	NM_002225.5(IVD):c.303C>T (p.Ser101=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 1011990	NM_002225.5(IVD):c.307C>G (p.Leu103Val)	IVD (L103V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
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 551222	NM_002225.5(IVD):c.349C>T (p.Arg117Ter)	IVD (R87* +3 more)	Single nucleotide variant (nonsense +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 989793	NM_002225.5(IVD):c.357C>T (p.Ser119=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 167199	NM_002225.5(IVD):c.358G>A (p.Gly120Arg)	IVD (G104R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 516119	NM_002225.5(IVD):c.400A>G (p.Ile134Val)	IVD (I118V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
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 747769	NM_002225.5(IVD):c.438A>G (p.Lys146=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 289203	NM_002225.5(IVD):c.456G>A (p.Lys152=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	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 1057882	NM_002225.5(IVD):c.467G>C (p.Gly156Ala)	IVD (G126A +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 855170	NM_002225.5(IVD):c.490A>G (p.Met164Val)	IVD (M134V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1254764	NM_002225.5(IVD):c.539C>T (p.Ala180Val)	IVD (A150V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 197740	NM_002225.5(IVD):c.550+57A>G	IVD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 258591	NM_002225.5(IVD):c.688-31T>C	IVD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 512292	NM_002225.5(IVD):c.690T>C (p.Gly230=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1027081	NM_002225.5(IVD):c.710C>T (p.Ser237Phe)	IVD (S207F +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
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 989794	NM_002225.5(IVD):c.784+9C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 661781	NM_002225.5(IVD):c.796C>G (p.Leu266Val)	IVD (L236V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +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 373346	NM_002225.5(IVD):c.823G>A (p.Val275Met)	IVD (V245M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 654524	NM_002225.5(IVD):c.832A>C (p.Ser278Arg)	IVD (S248R +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 459931	NM_002225.5(IVD):c.848A>G (p.Glu283Gly)	IVD (E283G +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 459932	NM_002225.5(IVD):c.870dup (p.Pro291fs)	IVD (P261fs +3 more)	Duplication (frameshift variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
Select item 1051378	NM_002225.5(IVD):c.865G>T (p.Gly289Trp)	IVD (G259W +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 864566	NM_002225.5(IVD):c.865G>A (p.Gly289Arg)	IVD (G289R +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 989796	NM_002225.5(IVD):c.870G>T (p.Gly290=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
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 969525	NM_002225.5(IVD):c.895C>G (p.Leu299Val)	IVD (L299V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 315801	NM_002225.5(IVD):c.916C>G (p.Leu306Val)	IVD (L306V +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 863598	NM_002225.5(IVD):c.995G>T (p.Arg332Leu)	IVD (R302L +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic
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 94049	NM_002225.5(IVD):c.1010G>A (p.Arg337Gln)	IVD (R307Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 258590	NM_002225.5(IVD):c.1065+41A>G	IVD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 315803	NM_002225.5(IVD):c.1066-5C>T	IVD	Single nucleotide variant (intron variant)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 515984	NM_002225.5(IVD):c.1122C>T (p.Asp374=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 1009175	NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)	IVD (F349S +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 459926	NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)	IVD (D387G +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 623383	NM_002225.5(IVD):c.1175G>A (p.Arg392His)	IVD (R392H +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 371390	NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)	IVD (Y400C +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1109706	NM_002225.5(IVD):c.1215G>A (p.Gly405=)	IVD	Single nucleotide variant (synonymous variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GLikely benign
Select item 203784	NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)	IVD (G415S +3 more)	Single nucleotide variant (missense variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency	GUncertain significance
Select item 315805	NM_002225.5(IVD):c.*195C>T	IVD	Single nucleotide variant (3 prime UTR variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 315807	NM_002225.5(IVD):c.*261G>A	IVD	Single nucleotide variant (3 prime UTR variant +1 more)	Isovaleryl-CoA dehydrogenase deficiency +1 more	GBenign

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Items: 72