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

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298057	NM_000016.5(ACADM):c.-403C>T	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298058	NM_000016.6(ACADM):c.-401G>A	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 298059	NM_000016.5(ACADM):c.-375C>T	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298060	NM_000016.6(ACADM):c.-362T>C	ACADM	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 298061	NM_000016.5(ACADM):c.-342G>T	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298062	NM_000016.5(ACADM):c.-304A>G	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298063	NM_000016.5(ACADM):c.-257G>A	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 298064	NM_000016.5(ACADM):c.-169C>T	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298065	NM_000016.6(ACADM):c.-142C>G	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 298066	NM_000016.5(ACADM):c.-92A>G	ACADM, LOC129930772	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 876394	NM_000016.6(ACADM):c.-78G>C	ACADM	Single nucleotide variant (5 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298067	NM_000016.6(ACADM):c.-50A>T	ACADM	Single nucleotide variant (5 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 136258	NM_000016.6(ACADM):c.-34T>C	ACADM	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 298068	NM_000016.6(ACADM):c.-29T>C	ACADM	Single nucleotide variant (5 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298069	NM_000016.6(ACADM):c.57T>C (p.His19=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 92257	NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)	ACADM (E43K +2 more)	Single nucleotide variant (missense variant +1 more)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 384767	NM_000016.6(ACADM):c.210T>G (p.Thr70=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92259	NM_000016.6(ACADM):c.216+10T>C	ACADM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 876395	NM_000016.6(ACADM):c.276A>G (p.Pro92=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 298070	NM_000016.6(ACADM):c.287-10G>C	ACADM	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92263	NM_000016.6(ACADM):c.351A>C (p.Thr117=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 226107	NM_000016.6(ACADM):c.469-9A>G	ACADM	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 92266	NM_000016.6(ACADM):c.489T>G (p.Pro163=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 226093	NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)	ACADM (A176S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 386599	NM_000016.6(ACADM):c.582C>T (p.Asn194=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 298071	NM_000016.6(ACADM):c.624T>C (p.Asp208=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 386718	NM_000016.6(ACADM):c.645T>A (p.Ala215=)	ACADM	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 226082	NM_000016.6(ACADM):c.678A>G (p.Ala226=)	ACADM	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 203538	NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)	ACADM (T228N +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3588	NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	ACADM (G267R +4 more)	Single nucleotide variant (missense variant)	ACADM-related condition +2 more	GPathogenic/Likely pathogenic
Select item 136257	NM_000016.6(ACADM):c.900C>T (p.Thr300=)	ACADM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 875360	NM_000016.6(ACADM):c.927C>T (p.Phe309=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 3586	NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	ACADM (K329E +4 more)	Single nucleotide variant (missense variant)	Abnormal circulating lipid concentration +7 more	GPathogenic/Likely pathogenic
Select item 298072	NM_000016.6(ACADM):c.994C>T (p.Leu332=)	ACADM	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875361	NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly)	ACADM (A152G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 92253	NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr)	ACADM (I368T +3 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 92254	NM_000016.6(ACADM):c.1161A>G (p.Val387=)	ACADM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 875423	NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu)	ACADM (K200E +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 226105	NM_000016.6(ACADM):c.*39G>A	ACADM	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 298073	NM_000016.6(ACADM):c.*44T>C	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298074	NM_000016.6(ACADM):c.*63dup	ACADM	Duplication (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 226053	NM_000016.6(ACADM):c.*77C>T	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GBenign/Likely benign
Select item 298075	NM_000016.6(ACADM):c.*133T>C	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 875424	NM_000016.6(ACADM):c.*177G>C	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298076	NM_000016.6(ACADM):c.*284C>T	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298077	NM_000016.6(ACADM):c.*317C>T	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 875425	NM_000016.6(ACADM):c.*427T>A	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298078	NM_000016.6(ACADM):c.*672T>C	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GBenign
Select item 298079	NM_000016.6(ACADM):c.*773G>A	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GBenign
Select item 298080	NM_000016.6(ACADM):c.*825del	ACADM	Deletion (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 876451	NM_000016.6(ACADM):c.*826T>C	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 298081	NM_000016.6(ACADM):c.*878T>C	ACADM	Single nucleotide variant (3 prime UTR variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GBenign

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Items: 52