C3887523[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166638	NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)	ACADVL, LOC130060113 (S22* +1 more)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 550622	NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)	ACADVL, LOC130060113 (R37fs +1 more)	Duplication (frameshift variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 523060	NM_000018.4(ACADVL):c.325G>A (p.Val109Met)	ACADVL (V109M +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1624	NM_000018.4(ACADVL):c.343del	ACADVL	Deletion (splice acceptor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 376917	NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	ACADVL (N122D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 2438817	NM_000018.4(ACADVL):c.455G>T (p.Gly152Val)	ACADVL (G130V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 324987	NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	ACADVL (A161T +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 92286	NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	ACADVL (V174M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 166641	NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	ACADVL (A180T +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 934787	NM_000018.4(ACADVL):c.632_633del (p.Val211fs)	ACADVL (V189fs +3 more)	Microsatellite (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 198683	NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)	ACADVL (A213T +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 92289	NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	ACADVL (G222R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 188884	NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	ACADVL (R229* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 2438815	NM_000018.4(ACADVL):c.753-36C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 21024	NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	ACADVL (T260M +3 more)	Single nucleotide variant (missense variant)	Very long chain fatty acid accumulation +2 more	GPathogenic/Likely pathogenic
Select item 203574	NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)	ACADVL (G273A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 203589	NM_000018.4(ACADVL):c.829_831del (p.Glu277del)	ACADVL (E277del +3 more)	Deletion (inframe_deletion)	ACADVL-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 21025	NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	ACADVL (V283A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 1453582	NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)	ACADVL (E209Q +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 932846	NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)	ACADVL (R210fs +3 more)	Microsatellite (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 291163	NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	ACADVL (I215fs +3 more)	Duplication (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 2438813	NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)	ACADVL (G214D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 2438816	NM_000018.4(ACADVL):c.897G>C (p.Lys299Asn)	ACADVL (K223N +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 92293	NM_000018.4(ACADVL):c.950T>C (p.Val317Ala)	ACADVL (V317A +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 92270	NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)	ACADVL (M334R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2438819	NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)	ACADVL (M276T +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 193541	NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)	ACADVL (I356V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 448981	NM_000018.4(ACADVL):c.1077+1G>A	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 370482	NM_000018.4(ACADVL):c.1077+1G>T	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 932804	NM_000018.4(ACADVL):c.1182+3G>T	ACADVL	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2434914	NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter)	ACADVL (Y322* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 21013	NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)	ACADVL (T409M +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2690505	NM_000018.4(ACADVL):c.1234del (p.Gln412fs)	ACADVL (Q336fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 582635	NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu)	ACADVL (S423L +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 617954	NM_000018.4(ACADVL):c.1281G>C (p.Trp427Cys)	ACADVL (W351C +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 21016	NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	ACADVL (G441D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 1634	NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	ACADVL (R450H +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 194317	NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)	ACADVL (R453* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 203592	NM_000018.3(ACADVL):c.1375dup	ACADVL (R459fs +3 more)	Duplication (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 448982	NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	ACADVL (G463E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21017	NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	ACADVL, DVL2 (R469W +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 203587	NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)	ACADVL (R511Q +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 282928	NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)	ACADVL (G523R +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2438814	NM_000018.4(ACADVL):c.1580C>T (p.Pro527Leu)	ACADVL (P451L +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 166647	NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	ACADVL (R531W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 617951	NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)	ACADVL (A463D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429730	NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)	ACADVL (A567fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 92278	NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	ACADVL (R567Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2438812	NM_000018.4(ACADVL):c.1751G>A (p.Arg584Lys)	ACADVL (R508K +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2438818	NM_000018.4(ACADVL):c.1801A>G (p.Met601Val)	ACADVL (M525V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1623	NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	ACADVL (R613W +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 618502	NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)	ACADVL (R537Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 379145	NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)	ACADVL (R615* +3 more)	Single nucleotide variant (nonsense)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database
Select item 2690827	NM_000018.4(ACADVL):c.1962C>T (p.Gly654=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance

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Items: 54