C0220710[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3240810	NM_000016.6(ACADM):c.31-1G>C	ACADM (Q14H)	Single nucleotide variant (missense variant +2 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
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)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
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 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 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)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2679943	NM_000016.6(ACADM):c.117del (p.Phe39fs)	ACADM (F39fs +1 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 281077	NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)	ACADM (Q45R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92258	NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	ACADM (R53C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +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
Select item 576994	NM_000016.6(ACADM):c.165del (p.Phe55fs)	ACADM (F55fs +2 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 3597	NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	ACADM (Y67H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2679988	NM_000016.6(ACADM):c.205A>T (p.Lys69Ter)	ACADM (K33* +2 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 1066634	NM_000016.6(ACADM):c.216+5G>T	ACADM	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3240833	NM_000016.6(ACADM):c.217-2A>C	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 1066760	NM_000016.6(ACADM):c.217-2A>G	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2679921	NM_000016.6(ACADM):c.217-1del	ACADM	Deletion (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 643196	NM_000016.6(ACADM):c.217-1G>A	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 3240832	NM_000016.6(ACADM):c.222del (p.Val75fs)	ACADM (V39fs +2 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 370428	NM_000016.6(ACADM):c.224del (p.Val75fs)	ACADM (V79fs +2 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 92261	NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)	ACADM (I78T +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic
Select item 188934	NM_000016.6(ACADM):c.244dup (p.Trp82fs)	ACADM (W46fs +2 more)	Duplication (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic
Select item 2679839	NM_000016.6(ACADM):c.245G>A (p.Trp82Ter)	ACADM (W46* +2 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 226097	NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)	ACADM (L84F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 497550	NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)	ACADM (G85C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1456808	NM_000016.6(ACADM):c.260T>C (p.Met87Thr)	ACADM (M91T +2 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2679912	NM_000016.6(ACADM):c.270_271dup (p.Ile91fs)	ACADM (I55fs +2 more)	Microsatellite (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 374389	NM_000016.6(ACADM):c.287-2A>G	ACADM	Single nucleotide variant (splice acceptor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240826	NM_000016.6(ACADM):c.287-1G>A	ACADM	Single nucleotide variant (splice acceptor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 1677079	NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)	ACADM (F103fs +3 more)	Insertion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2679791	NM_000016.6(ACADM):c.308T>A (p.Phe103Tyr)	ACADM (F103Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1473955	NM_000016.6(ACADM):c.311A>G (p.Asp104Gly)	ACADM (D104G +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 226102	NM_000016.6(ACADM):c.322_325del (p.Ile108fs)	ACADM (I108fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 197615	NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)	ACADM (L111S +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 226076	NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)	ACADM (C116G +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 226068	NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)	ACADM (C116Y +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 422601	NM_000016.6(ACADM):c.355dup (p.Val119fs)	ACADM (V123fs +3 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3599	NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)	ACADM (T121I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1453649	NM_000016.6(ACADM):c.383dup (p.Leu128fs)	ACADM (L128fs +3 more)	Duplication (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 188719	NM_000016.6(ACADM):c.387+1del	ACADM	Deletion (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic
Select item 2679894	NM_000016.6(ACADM):c.387+2T>C	ACADM	Single nucleotide variant (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679765	NM_000016.6(ACADM):c.387+2T>A	ACADM	Single nucleotide variant (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 552529	NM_000016.6(ACADM):c.388-19T>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 280949	NM_000016.6(ACADM):c.388-14A>G	ACADM	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 226079	NM_000016.6(ACADM):c.388-3T>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 226055	NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)	ACADM (P132R +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 650461	NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)	ACADM (I168del +3 more)	Microsatellite (inframe_deletion +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 226062	NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)	ACADM (K144del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203548	NM_000016.6(ACADM):c.426del (p.Lys143fs)	ACADM (K143fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1708368	NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)	ACADM (K108* +3 more)	Single nucleotide variant (nonsense +1 more)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 371546	NM_000016.6(ACADM):c.431_434del (p.Lys144fs)	ACADM (K144fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 370885	NM_000016.6(ACADM):c.437del (p.Leu146fs)	ACADM (L150fs +3 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 198025	NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	ACADM (R152K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189036	NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	ACADM (T150fs +3 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 3591	NM_000016.6(ACADM):c.447G>A (p.Met149Ile)	ACADM (M149I +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 557423	NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)	ACADM (L154W +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 226106	NM_000016.6(ACADM):c.464T>C (p.Met155Thr)	ACADM (M155T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2444652	NM_000016.6(ACADM):c.468+1G>A	ACADM	Single nucleotide variant (splice donor variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 807358	NM_000016.6(ACADM):c.472T>C (p.Tyr158His)	ACADM (Y162H +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2679958	NM_000016.6(ACADM):c.474T>A (p.Tyr158Ter)	ACADM (Y122* +3 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 226072	NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)	ACADM (D168A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 495343	NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)	ACADM (A176T +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 557739	NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)	ACADM (M1del)	Deletion (inframe_deletion +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 557798	NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)	ACADM (D181G +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 1076157	NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)	ACADM (I149T +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 198379	NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)	ACADM (N190K +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2679950	NM_000016.6(ACADM):c.567del (p.Met190fs)	ACADM (M154fs +3 more)	Deletion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240809	NM_000016.6(ACADM):c.572G>A (p.Trp191Ter)	ACADM (W155* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3595	NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)	ACADM (T193A +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 226100	NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)	ACADM (N194D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3594	NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	ACADM (G199R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1478499	NM_000016.6(ACADM):c.589A>G (p.Lys197Glu)	ACADM (K161E +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 226060	NM_000016.6(ACADM):c.599+1G>A	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 438863	NM_000016.6(ACADM):c.599+3A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 226084	NM_000016.6(ACADM):c.600-18G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 960879	NM_000016.6(ACADM):c.601del (p.Tyr201fs)	ACADM (Y205fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2679967	NM_000016.6(ACADM):c.608dup (p.Leu203fs)	ACADM (L14fs +4 more)	Duplication (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2679863	NM_000016.6(ACADM):c.603T>A (p.Tyr201Ter)	ACADM (Y12* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 226065	NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)	ACADM (L203F +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1455130	NM_000016.6(ACADM):c.613G>C (p.Ala205Pro)	ACADM (A238P +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 92267	NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)	ACADM (R210C +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556697	NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)	ACADM (R206L +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 92268	NM_000016.6(ACADM):c.617G>A (p.Arg206His)	ACADM (R210H +3 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1404546	NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)	ACADM (A222G +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 226081	NM_000016.6(ACADM):c.661G>A (p.Gly221Arg)	ACADM (G221R +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 858831	NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)	ACADM (I187T +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 203538	NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)	ACADM (T228N +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 203539	NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	ACADM (I233T +4 more)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +2 more	GPathogenic/Likely pathogenic
Select item 198979	NM_000016.6(ACADM):c.709-13A>G	ACADM	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2679875	NM_000016.6(ACADM):c.709-2A>G	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 370633	NM_000016.6(ACADM):c.709-1G>A	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 3240831	NM_000016.6(ACADM):c.712_715del (p.Leu238fs)	ACADM (L202fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 570397	NM_000016.6(ACADM):c.717C>G (p.Asn239Lys)	ACADM (N239K +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1438490	NM_000016.6(ACADM):c.727C>T (p.Arg243Ter)	ACADM (R276* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency +1 more	GPathogenic
Select item 226088	NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)	ACADM (R243Q +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GConflicting classifications of pathogenicity

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