"Illumina Laboratory Services, Illumina"[submitter] AND "ACAD8"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368944	NM_014384.2(ACAD8):c.-67G>A	ACAD8	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 95584	NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro)	ACAD8	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 303670	NM_014384.3(ACAD8):c.99C>T (p.Ser33=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 880149	NM_014384.3(ACAD8):c.110-13A>G	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303671	NM_014384.3(ACAD8):c.110-9T>C	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 719659	NM_014384.3(ACAD8):c.207G>A (p.Gln69=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 468861	NM_014384.3(ACAD8):c.210+6C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GBenign/Likely benign
Select item 303672	NM_014384.3(ACAD8):c.211-4A>G	ACAD8	Single nucleotide variant (intron variant)	ACAD8-related condition +2 more	GBenign
Select item 303673	NM_014384.3(ACAD8):c.275A>G (p.Gln92Arg)	ACAD8 (Q92R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303674	NM_014384.3(ACAD8):c.337G>A (p.Ala113Thr)	ACAD8 (A113T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 877359	NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys)	ACAD8 (I123K)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 877360	NM_014384.3(ACAD8):c.380+7G>A	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303675	NM_014384.3(ACAD8):c.381-4T>A	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303676	NM_014384.3(ACAD8):c.432A>G (p.Lys144=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 878385	NM_014384.3(ACAD8):c.453C>T (p.Thr151=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
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 878386	NM_014384.3(ACAD8):c.491-6C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 878387	NM_014384.3(ACAD8):c.494G>C (p.Ser165Thr)	ACAD8 (S165T)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 95589	NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys)	ACAD8	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 303677	NM_014384.3(ACAD8):c.525C>T (p.Ser175=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303678	NM_014384.3(ACAD8):c.558T>C (p.Asn186=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303679	NM_014384.3(ACAD8):c.567+12C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 647866	NM_014384.3(ACAD8):c.643A>G (p.Ile215Val)	ACAD8 (I215V)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 632056	NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter)	ACAD8 (R244*)	Single nucleotide variant (nonsense)	Deficiency of isobutyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 878974	NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)	ACAD8 (A269V)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 878975	NM_014384.3(ACAD8):c.833T>C (p.Ile278Thr)	ACAD8 (I278T)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303680	NM_014384.3(ACAD8):c.841+7T>C	ACAD8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 303681	NM_014384.3(ACAD8):c.841+9C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 303682	NM_014384.3(ACAD8):c.841+15G>A	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 878976	NM_014384.3(ACAD8):c.842-15G>A	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303683	NM_014384.3(ACAD8):c.842-8C>G	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GBenign/Likely benign
Select item 878977	NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln)	ACAD8 (R296Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 372297	NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)	ACAD8 (A320T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 880203	NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr)	ACAD8 (A329T)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303684	NM_014384.3(ACAD8):c.1092C>T (p.Ala364=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
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 880204	NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr)	ACAD8 (A383T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 303685	NM_014384.3(ACAD8):c.1195+12C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GBenign
Select item 303686	NM_014384.3(ACAD8):c.1233C>T (p.Ser411=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 880205	NM_014384.3(ACAD8):c.*69G>T	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 880206	NM_014384.3(ACAD8):c.*82G>C	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303687	NM_014384.3(ACAD8):c.*168G>A	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GBenign
Select item 877414	NM_014384.3(ACAD8):c.*190C>T	ACAD8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 877415	NM_014384.3(ACAD8):c.*195G>C	ACAD8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 877416	NM_014384.3(ACAD8):c.*202A>C	ACAD8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 303688	NM_014384.3(ACAD8):c.*238G>C	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 877417	NM_014384.3(ACAD8):c.*266T>A	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303689	NM_014384.3(ACAD8):c.*277C>T	ACAD8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 303690	NM_014384.3(ACAD8):c.*306C>T	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303691	NM_014384.3(ACAD8):c.*351C>G	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303692	NM_014384.3(ACAD8):c.*377C>T	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GBenign
Select item 303693	NM_014384.3(ACAD8):c.*441C>G	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303694	NM_014384.3(ACAD8):c.*494A>G	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 303695	NM_014384.3(ACAD8):c.*608G>A	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 878439	NM_014384.3(ACAD8):c.*622C>T	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 878440	NM_014384.3(ACAD8):c.*634T>C	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303696	NM_014384.3(ACAD8):c.*652C>G	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 878441	NM_014384.3(ACAD8):c.*683A>G	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GBenign
Select item 303697	NM_014384.3(ACAD8):c.*696A>G	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303698	NM_014384.3(ACAD8):c.*705T>G	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 303699	NM_014384.3(ACAD8):c.*874C>G	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic

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Items: 62