"Genome-Nilou Lab"[submitter] AND "ACADM"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298063	NM_000016.6(ACADM):c.-257G>A	ACADM	Single nucleotide variant	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 226074	NM_000016.6(ACADM):c.31-73T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign
Select item 254691	NM_000016.6(ACADM):c.31-32C>G	ACADM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 226050	NM_000016.6(ACADM):c.118+60del	ACADM	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1195910	NM_000016.6(ACADM):c.139G>A (p.Glu47Lys)	ACADM (E11K +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 92259	NM_000016.6(ACADM):c.216+10T>C	ACADM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 676189	NM_000016.6(ACADM):c.286+178G>A	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign
Select item 254689	NM_000016.6(ACADM):c.387+32C>G	ACADM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 254690	NM_000016.6(ACADM):c.469-22C>A	ACADM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1177606	NM_000016.6(ACADM):c.945+99T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GBenign
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 1195911	NM_000016.6(ACADM):c.1103T>C (p.Leu368Ser)	ACADM (L179S +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 92254	NM_000016.6(ACADM):c.1161A>G (p.Val387=)	ACADM	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 226105	NM_000016.6(ACADM):c.*39G>A	ACADM	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign