"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ACADM"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584254	NC_000001.11:g.(?_75541435)_(76074884_?)del	ACADM, ASB17 +21 more	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 966945	NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)	ACADM (M1fs)	Indel (frameshift variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1428164	NM_000016.6(ACADM):c.1A>T (p.Met1Leu)	ACADM (M1L)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 370802	NM_000016.6(ACADM):c.1A>G (p.Met1Val)	ACADM (M1V)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2733904	NM_000016.6(ACADM):c.2T>G (p.Met1Arg)	ACADM (M1R)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 555765	NM_000016.6(ACADM):c.3G>C (p.Met1Ile)	ACADM (M1I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1570166	NM_000016.6(ACADM):c.6A>G (p.Ala2=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1144965	NM_000016.6(ACADM):c.6A>T (p.Ala2=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1125582	NM_000016.6(ACADM):c.6A>C (p.Ala2=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2197475	NM_000016.6(ACADM):c.10G>A (p.Gly4Arg)	ACADM (G4R)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2166644	NM_000016.6(ACADM):c.11G>T (p.Gly4Val)	ACADM (G4V)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2140627	NM_000016.6(ACADM):c.12G>A (p.Gly4=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1512550	NM_000016.6(ACADM):c.12G>T (p.Gly4=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1090807	NM_000016.6(ACADM):c.12G>C (p.Gly4=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1999030	NM_000016.6(ACADM):c.17G>A (p.Gly6Glu)	ACADM (G6E)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 799225	NM_000016.6(ACADM):c.21A>G (p.Arg7=)	ACADM (M1V)	Single nucleotide variant (synonymous variant +3 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1420172	NM_000016.6(ACADM):c.24C>A (p.Cys8Ter)	ACADM (C8* +1 more)	Single nucleotide variant (nonsense +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1980596	NM_000016.6(ACADM):c.30+1G>C	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1369032	NM_000016.6(ACADM):c.30+2T>G	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 551031	NM_000016.6(ACADM):c.30+2T>C	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1469362	NM_000016.6(ACADM):c.30+4A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2892428	NM_000016.6(ACADM):c.30+5G>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1973375	NM_000016.6(ACADM):c.30+8G>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1143007	NM_000016.6(ACADM):c.30+8G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1080657	NM_000016.6(ACADM):c.30+9G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1077645	NM_000016.6(ACADM):c.30+9G>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 506817	NM_000016.6(ACADM):c.30+10A>G	ACADM	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2884791	NM_000016.6(ACADM):c.30+11G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2891558	NM_000016.6(ACADM):c.30+14C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2874343	NM_000016.6(ACADM):c.30+18G>C	ACADM, LOC129930773	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2740990	NM_000016.6(ACADM):c.30+18G>T	ACADM, LOC129930773	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1630646	NM_000016.6(ACADM):c.30+18G>A	ACADM, LOC129930773	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1550053	NM_000016.6(ACADM):c.30+20T>C	ACADM, LOC129930773	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1957976	NM_000016.6(ACADM):c.31-20A>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2836405	NM_000016.6(ACADM):c.31-19A>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2069777	NM_000016.6(ACADM):c.31-17A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1922232	NM_000016.6(ACADM):c.31-16A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1901397	NM_000016.6(ACADM):c.31-13G>A	ACADM	Single nucleotide variant (splice acceptor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2149281	NM_000016.6(ACADM):c.31-12T>G	ACADM (C11G)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2139697	NM_000016.6(ACADM):c.31-12T>C	ACADM (C11R)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1532040	NM_000016.6(ACADM):c.31-8C>T	ACADM (S12F)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2132659	NM_000016.6(ACADM):c.31-5T>A	ACADM (L13*)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1577936	NM_000016.6(ACADM):c.31-5T>C	ACADM (L13S)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1151258	NM_000016.6(ACADM):c.31-4A>G	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1347938	NM_000016.6(ACADM):c.31-2A>G	ACADM (Q14R)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 1715241	NM_000016.6(ACADM):c.32T>C (p.Val11Ala)	ACADM (V11A +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 751349	NM_000016.6(ACADM):c.33C>T (p.Val11=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1095518	NM_000016.6(ACADM):c.34C>T (p.Leu12=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 528454	NM_000016.6(ACADM):c.47del (p.Ser16fs)	ACADM (S20fs +1 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 226078	NM_000016.6(ACADM):c.50G>A (p.Arg17His)	ACADM (R17H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2842801	NM_000016.6(ACADM):c.54T>C (p.Phe18=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1391546	NM_000016.6(ACADM):c.56A>G (p.His19Arg)	ACADM (H19R +1 more)	Single nucleotide variant (missense variant +1 more)	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)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2860059	NM_000016.6(ACADM):c.65C>G (p.Ser22Ter)	ACADM (S22* +1 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 2023607	NM_000016.6(ACADM):c.65C>A (p.Ser22Ter)	ACADM (S22* +1 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 665907	NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)	ACADM (Q27* +1 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1363324	NM_000016.6(ACADM):c.77A>C (p.Lys26Thr)	ACADM (K30T +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 2707527	NM_000016.6(ACADM):c.81C>T (p.Ala27=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2888497	NM_000016.6(ACADM):c.83A>G (p.Asn28Ser)	ACADM (N32S +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GUncertain significance
Select item 928650	NM_000016.6(ACADM):c.85C>T (p.Arg29Ter)	ACADM (R29* +1 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 203537	NM_000016.6(ACADM):c.86G>T (p.Arg29Leu)	ACADM (R29L +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1353196	NM_000016.6(ACADM):c.87A>G (p.Arg29=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1642416	NM_000016.6(ACADM):c.90A>G (p.Gln30=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2150044	NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)	ACADM (R35C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 859753	NM_000016.6(ACADM):c.92G>A (p.Arg31His)	ACADM (R31H +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2114239	NM_000016.6(ACADM):c.98C>G (p.Pro33Arg)	ACADM (P37R +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1100912	NM_000016.6(ACADM):c.99A>G (p.Pro33=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2956704	NM_000016.6(ACADM):c.101G>T (p.Gly34Val)	ACADM (G34V +1 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 226104	NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)	ACADM	Duplication (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 964031	NM_000016.6(ACADM):c.104T>G (p.Leu35Ter)	ACADM (L39* +1 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 1561502	NM_000016.6(ACADM):c.108A>G (p.Gly36=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 370561	NM_000016.6(ACADM):c.118+1G>T	ACADM	Single nucleotide variant (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2091131	NM_000016.6(ACADM):c.118+10C>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 737014	NM_000016.6(ACADM):c.118+10C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3019500	NM_000016.6(ACADM):c.118+11G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1984781	NM_000016.6(ACADM):c.118+17A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 92256	NM_000016.6(ACADM):c.119-20T>C	ACADM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1558462	NM_000016.6(ACADM):c.119-16A>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2202771	NM_000016.6(ACADM):c.119-12A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1534511	NM_000016.6(ACADM):c.119-10_119-8dup	ACADM	Duplication (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2757645	NM_000016.6(ACADM):c.119-7C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1905127	NM_000016.6(ACADM):c.119-7C>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2905597	NM_000016.6(ACADM):c.119-5C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 842838	NM_000016.6(ACADM):c.119-1G>C	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2114577	NM_000016.6(ACADM):c.120G>C (p.Glu40Asp)	ACADM (E4D +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 740709	NM_000016.6(ACADM):c.120G>A (p.Glu40=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 281033	NM_000016.6(ACADM):c.125C>T (p.Thr42Ile)	ACADM (T42I +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GUncertain significance
Select item 799064	NM_000016.6(ACADM):c.126C>T (p.Thr42=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GLikely benign
Select item 92257	NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)	ACADM (E43K +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 2823094	NM_000016.6(ACADM):c.130C>T (p.Gln44Ter)	ACADM (Q44* +2 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 265023	NM_000016.6(ACADM):c.131A>G (p.Gln44Arg)	ACADM (Q44R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1611510	NM_000016.6(ACADM):c.132G>A (p.Gln44=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2420712	NM_000016.6(ACADM):c.136_158dup (p.Phe55fs)	ACADM (F19fs +2 more)	Duplication (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 281077	NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)	ACADM (Q45R +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2010808	NM_000016.6(ACADM):c.135G>C (p.Gln45His)	ACADM (Q45H +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 1556012	NM_000016.6(ACADM):c.150T>A (p.Ala50=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 1363051	NM_000016.6(ACADM):c.154_156del (p.Ala52del)	ACADM (A52del +2 more)	Deletion (inframe_deletion +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance
Select item 1584496	NM_000016.6(ACADM):c.153T>G (p.Thr51=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 92258	NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	ACADM (R53C +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic
Select item 226066	NM_000016.6(ACADM):c.158G>A (p.Arg53His)	ACADM (R53H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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