"Eurofins Ntd Llc (ga)"[submitter] AND "ACAD8"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95584	NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro)	ACAD8	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 468861	NM_014384.3(ACAD8):c.210+6C>T	ACAD8	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 166632	NM_014384.2(ACAD8):c.235C>T (p.Arg79Trp)	ACAD8	Single nucleotide variant	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 281037	NM_014384.3(ACAD8):c.289G>A (p.Gly97Arg)	ACAD8 (G97R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 95585	NM_014384.3(ACAD8):c.384G>A (p.Met128Ile)	ACAD8	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 95586	NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)	ACAD8	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 95587	NM_014384.3(ACAD8):c.447_448dup (p.Cys150fs)	ACAD8 (C150fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 286498	NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser)	ACAD8 (A156S)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 95588	NM_014384.3(ACAD8):c.481A>G (p.Thr161Ala)	ACAD8	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95589	NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys)	ACAD8	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +2 more	GBenign/Likely benign
Select item 287690	NM_014384.3(ACAD8):c.605T>A (p.Val202Glu)	ACAD8 (V202E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95590	NM_014384.3(ACAD8):c.616C>G (p.Arg206Gly)	ACAD8	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 496850	NM_014384.3(ACAD8):c.706-21G>A	ACAD8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 597044	NM_014384.3(ACAD8):c.731G>A (p.Arg244Gln)	ACAD8 (R244Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95591	NM_014384.3(ACAD8):c.784G>A (p.Glu262Lys)	ACAD8	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 303680	NM_014384.3(ACAD8):c.841+7T>C	ACAD8	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 5359	NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)	ACAD8 (R302Q)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 372297	NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)	ACAD8 (A320T)	Single nucleotide variant (missense variant)	ACAD8-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 166633	NM_014384.3(ACAD8):c.965T>C (p.Met322Thr)	ACAD8	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95592	NM_014384.3(ACAD8):c.977T>A (p.Leu326Gln)	ACAD8	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5357	NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)	ACAD8 (R330W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285752	NM_014384.3(ACAD8):c.1092+3_1092+6del	ACAD8	Deletion (splice donor variant)	not provided +1 more	GUncertain significance
Select item 496851	NM_014384.3(ACAD8):c.1093-22T>C	ACAD8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 5356	NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)	ACAD8	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 303685	NM_014384.3(ACAD8):c.1195+12C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase +2 more	GBenign

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Items: 25