ClinVar for MedGen (Select 65086) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251329	NM_000016.6(ACADM):c.799G>C (p.Gly267Arg)	ACADM (G231R +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247654	NC_000001.10:g.(?_76214646)_(76216163_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247653	NC_000001.10:g.(?_76211471)_(76227075_?)dup	ACADM	Duplication	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3247652	NC_000001.10:g.(?_76198309)_(76200576_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247651	NC_000001.10:g.(?_76226787)_(76228448_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247650	NC_000001.10:g.(?_76190473)_(76194193_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247649	NC_000001.10:g.(?_76190473)_(76190522_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3247648	NC_000001.10:g.(?_76190473)_(76228448_?)del	ACADM	Deletion	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
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 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 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 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 3240820	NM_000016.6(ACADM):c.1169_1170del (p.Leu390fs)	ACADM (L201fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240812	NM_000016.6(ACADM):c.1036_1045delinsAAT (p.Ser346fs)	ACADM (S157fs +4 more)	Indel (frameshift variant)	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 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 3240807	NM_000016.6(ACADM):c.1129G>T (p.Gly377Ter)	ACADM (G188* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3240785	NM_000016.6(ACADM):c.901A>T (p.Lys301Ter)	ACADM (K112* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 3240779	NM_000016.6(ACADM):c.1195-2A>C	ACADM	Single nucleotide variant (splice acceptor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3239711	NM_000016.6(ACADM):c.1194+1dup	ACADM	Duplication (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 3239710	NM_000016.6(ACADM):c.242_243insT (p.Trp82fs)	ACADM (W46fs +2 more)	Insertion (frameshift variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
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 3019017	NM_000016.6(ACADM):c.945+20C>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3017481	NM_000016.6(ACADM):c.1195-14T>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3016635	NM_000016.6(ACADM):c.702G>T (p.Gly234=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3009807	NM_000016.6(ACADM):c.469-20C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 3008973	NM_000016.6(ACADM):c.712T>C (p.Leu238=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2998975	NM_000016.6(ACADM):c.217-4C>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2998627	NM_000016.6(ACADM):c.1029G>A (p.Glu343=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2994873	NM_000016.6(ACADM):c.945+11T>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2990949	NM_000016.6(ACADM):c.1195-15A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2989080	NM_000016.6(ACADM):c.599+17A>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2987377	NM_000016.6(ACADM):c.1194+16A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2985584	NM_000016.6(ACADM):c.217-8T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2981036	NM_000016.6(ACADM):c.850-6T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2963785	NM_000016.6(ACADM):c.849+13G>A	ACADM	Single nucleotide variant (intron variant)	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 2920488	NM_000016.6(ACADM):c.850-15A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2920466	NM_000016.6(ACADM):c.709-19A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2920356	NM_000016.6(ACADM):c.945+13C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2919608	NM_000016.6(ACADM):c.468+20G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2918368	NM_000016.6(ACADM):c.469-16T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2917034	NM_000016.6(ACADM):c.1188C>G (p.Ile396Met)	ACADM (I400M +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2916291	NM_000016.6(ACADM):c.850-19T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2916275	NM_000016.6(ACADM):c.217-12T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2915996	NM_000016.6(ACADM):c.900C>G (p.Thr300=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2914709	NM_000016.6(ACADM):c.972T>A (p.Ala324=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2914611	NM_000016.6(ACADM):c.709-13A>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2914445	NM_000016.6(ACADM):c.849+14_849+15insCCAT	ACADM	Insertion (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2908639	NM_000016.6(ACADM):c.946-13T>C	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 2903801	NM_000016.6(ACADM):c.1194+23dup	ACADM	Duplication (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GBenign
Select item 2901097	NM_000016.6(ACADM):c.599+16C>T	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2900187	NM_000016.6(ACADM):c.849+14G>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2900081	NM_000016.6(ACADM):c.946-10T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2898656	NM_000016.6(ACADM):c.388-19T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2892475	NM_000016.6(ACADM):c.918G>A (p.Arg306=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
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 2892191	NM_000016.6(ACADM):c.709-18T>C	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 2889161	NM_000016.6(ACADM):c.708+11_708+14del	ACADM	Microsatellite (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2888959	NM_000016.6(ACADM):c.1195-21_1195-11del	ACADM	Deletion (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2888508	NM_000016.6(ACADM):c.404T>C (p.Ile135Thr)	ACADM (I168T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2888497	NM_000016.6(ACADM):c.83A>G (p.Asn28Ser)	ACADM (N32S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 2884679	NM_000016.6(ACADM):c.762T>C (p.Asp254=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2882788	NM_000016.6(ACADM):c.216+19A>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2880577	NM_000016.6(ACADM):c.217-12T>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2880567	NM_000016.6(ACADM):c.216+13A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2875447	NM_000016.6(ACADM):c.331G>A (p.Glu111Lys)	ACADM (E144K +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
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 2872623	NM_000016.6(ACADM):c.987A>G (p.Lys329=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2870637	NM_000016.6(ACADM):c.945+18dup	ACADM	Duplication (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2867367	NM_000016.6(ACADM):c.469-6T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2866010	NM_000016.6(ACADM):c.599+11C>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2861388	NM_000016.6(ACADM):c.1049_1055dup (p.Tyr352Ter)	ACADM (Y356* +4 more)	Duplication (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
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 2856957	NM_000016.6(ACADM):c.946-6T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2856206	NM_000016.6(ACADM):c.946-14_946-12del	ACADM	Deletion (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2854237	NM_000016.6(ACADM):c.1186dup (p.Ile396fs)	ACADM (I207fs +4 more)	Duplication (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 2848570	NM_000016.6(ACADM):c.217-13C>A	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2844866	NM_000016.6(ACADM):c.573G>A (p.Trp191Ter)	ACADM (W195* +4 more)	Single nucleotide variant (nonsense)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
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 2842225	NM_000016.6(ACADM):c.600-12T>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2839315	NC_000001.11:g.75745798_75745814TC[2]TTAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTCTTAGGTATTTTTT[1]	ACADM	Microsatellite	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
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 2834904	NM_000016.6(ACADM):c.1197T>C (p.Ile399=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2832726	NM_000016.6(ACADM):c.1203_1224del (p.Glu401fs)	ACADM (E365fs +4 more)	Deletion (frameshift variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 2829096	NM_000016.6(ACADM):c.216+1G>A	ACADM	Single nucleotide variant (splice donor variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 2826656	NM_000016.6(ACADM):c.287-12T>C	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2825628	NM_000016.6(ACADM):c.753C>A (p.Val251=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2825451	NM_000016.6(ACADM):c.1194+13A>G	ACADM	Single nucleotide variant (intron variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2825272	NM_000016.6(ACADM):c.1177G>A (p.Asp393Asn)	ACADM (D426N +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely pathogenic
Select item 2824397	NM_000016.6(ACADM):c.954A>G (p.Ala318=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2823139	NM_000016.6(ACADM):c.1117G>A (p.Val373Met)	ACADM (V377M +4 more)	Single nucleotide variant (missense variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
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 2821474	NM_000016.6(ACADM):c.738T>C (p.Asp246=)	ACADM	Single nucleotide variant (synonymous variant)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2820697	NM_000016.6(ACADM):c.408T>C (p.Ala136=)	ACADM	Single nucleotide variant (synonymous variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GLikely benign
Select item 2818362	NM_000016.6(ACADM):c.331G>T (p.Glu111Ter)	ACADM (E115* +3 more)	Single nucleotide variant (nonsense +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GPathogenic
Select item 2817895	NM_000016.6(ACADM):c.307T>C (p.Phe103Leu)	ACADM (F103L +3 more)	Single nucleotide variant (missense variant +1 more)	Medium-chain acyl-coenzyme A dehydrogenase deficiency	GUncertain significance

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