ClinVar for MedGen (Select 370754) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061797	NM_014384.3(ACAD8):c.758T>G (p.Val253Gly)	ACAD8 (V253G)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 3023377	NM_014384.3(ACAD8):c.859G>C (p.Ala287Pro)	ACAD8 (A287P)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 3001539	NM_014384.3(ACAD8):c.940-13C>G	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2998335	NM_014384.3(ACAD8):c.1A>G (p.Met1Val)	ACAD8 (M1V)	Single nucleotide variant (missense variant +1 more)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2967352	NM_014384.3(ACAD8):c.285G>A (p.Val95=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2954661	NM_014384.3(ACAD8):c.473A>C (p.Tyr158Ser)	ACAD8 (Y158S)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GPathogenic
Select item 2917265	NM_014384.3(ACAD8):c.375C>G (p.Ile125Met)	ACAD8 (I125M)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2868371	NM_014384.3(ACAD8):c.1196-9C>G	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2859641	NM_014384.3(ACAD8):c.1195+10G>A	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2844227	NM_014384.3(ACAD8):c.939+1G>T	ACAD8	Single nucleotide variant (splice donor variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2816456	NM_014384.3(ACAD8):c.494G>T (p.Ser165Ile)	ACAD8 (S165I)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2797285	NM_014384.3(ACAD8):c.344G>A (p.Gly115Asp)	ACAD8 (G115D)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2783863	NM_014384.3(ACAD8):c.210+7G>A	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2770700	NM_014384.3(ACAD8):c.198G>A (p.Glu66=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2723166	NM_014384.3(ACAD8):c.1161C>T (p.Tyr387=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2720595	NM_014384.3(ACAD8):c.822C>T (p.Asn274=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2716443	NM_014384.3(ACAD8):c.886C>T (p.Arg296Ter)	ACAD8 (R296*)	Single nucleotide variant (nonsense)	Deficiency of isobutyryl-CoA dehydrogenase	GPathogenic
Select item 2541180	NM_014384.3(ACAD8):c.730C>G (p.Arg244Gly)	ACAD8 (R244G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439095	NM_014384.3(ACAD8):c.205C>T (p.Gln69Ter)	ACAD8 (Q69*)	Single nucleotide variant (nonsense)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2438797	NM_014384.3(ACAD8):c.687T>G (p.Phe229Leu)	ACAD8 (F229L)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2418194	NM_014384.3(ACAD8):c.79G>A (p.Gly27Ser)	ACAD8 (G27S)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2415732	NM_014384.3(ACAD8):c.842-19C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2414374	NM_014384.3(ACAD8):c.1146C>T (p.Tyr382=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2196367	NM_014384.3(ACAD8):c.868G>A (p.Ala290Thr)	ACAD8 (A290T)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2190529	NM_014384.3(ACAD8):c.259G>A (p.Gly87Arg)	ACAD8 (G87R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2182881	NM_014384.3(ACAD8):c.109+19G>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2078075	NM_014384.3(ACAD8):c.372C>G (p.Ser124Arg)	ACAD8 (S124R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 2074051	NM_014384.3(ACAD8):c.616C>T (p.Arg206Ter)	ACAD8 (R206*)	Single nucleotide variant (nonsense)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GPathogenic
Select item 2074020	NM_014384.3(ACAD8):c.441A>G (p.Pro147=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2054061	NM_014384.3(ACAD8):c.1119C>T (p.His373=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2052957	NM_014384.3(ACAD8):c.951C>T (p.Phe317=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 2047520	NM_014384.3(ACAD8):c.3G>C (p.Met1Ile)	ACAD8 (M1I)	Single nucleotide variant (missense variant +1 more)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2008608	NM_014384.3(ACAD8):c.459G>A (p.Glu153=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1989824	NM_014384.3(ACAD8):c.109C>T (p.Pro37Ser)	ACAD8 (P37S)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1983565	NM_014384.3(ACAD8):c.130G>A (p.Glu44Lys)	ACAD8 (E44K)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1982853	NM_014384.3(ACAD8):c.986C>T (p.Ala329Val)	ACAD8 (A329V)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1968210	NM_014384.3(ACAD8):c.12C>T (p.Ser4=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1954125	NM_014384.3(ACAD8):c.589G>T (p.Glu197Ter)	ACAD8 (E197*)	Single nucleotide variant (nonsense)	Deficiency of isobutyryl-CoA dehydrogenase	GPathogenic
Select item 1934369	NM_014384.3(ACAD8):c.104T>G (p.Ile35Ser)	ACAD8 (I35S)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1719036	NM_014384.3(ACAD8):c.1097G>A (p.Cys366Tyr)	ACAD8 (C366Y)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1715728	NM_014384.3(ACAD8):c.868G>C (p.Ala290Pro)	ACAD8 (A290P)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1670803	NM_014384.3(ACAD8):c.1195+7_1195+8delinsTA	ACAD8	Indel (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1662395	NM_014384.3(ACAD8):c.211-20C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1630041	NM_014384.3(ACAD8):c.846C>G (p.Ser282=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1613247	NM_014384.3(ACAD8):c.909G>A (p.Lys303=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1605121	NM_014384.3(ACAD8):c.567+8C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1595006	NM_014384.3(ACAD8):c.110-17T>C	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1592303	NM_014384.3(ACAD8):c.380+17G>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GLikely benign
Select item 1589595	NM_014384.3(ACAD8):c.939+11C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1582054	NM_014384.3(ACAD8):c.178A>G (p.Met60Val)	ACAD8 (M60V)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 1577390	NM_014384.3(ACAD8):c.984C>T (p.Ala328=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1524558	NM_014384.3(ACAD8):c.316T>C (p.Ser106Pro)	ACAD8 (S106P)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1515441	NM_014384.3(ACAD8):c.670A>G (p.Thr224Ala)	ACAD8 (T224A)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1509516	NM_014384.3(ACAD8):c.964A>G (p.Met322Val)	ACAD8 (M322V)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1499156	NM_014384.3(ACAD8):c.845C>T (p.Ser282Phe)	ACAD8 (S282F)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1498335	NM_014384.3(ACAD8):c.431A>G (p.Lys144Arg)	ACAD8 (K144R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1464222	NM_014384.3(ACAD8):c.326T>C (p.Phe109Ser)	ACAD8 (F109S)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1462038	NM_014384.3(ACAD8):c.1057A>G (p.Met353Val)	ACAD8 (M353V)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1459900	NC_000011.9:g.(?_133778964)_(134134854_?)del	THYN1, VPS26B +4 more	Deletion	not provided	GPathogenic
Select item 1452933	NM_014384.3(ACAD8):c.1092+1G>A	ACAD8	Single nucleotide variant (splice donor variant)	Deficiency of isobutyryl-CoA dehydrogenase	GPathogenic
Select item 1452755	NM_014384.3(ACAD8):c.286G>A (p.Gly96Ser)	ACAD8 (G96S)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GPathogenic
Select item 1444105	NM_014384.3(ACAD8):c.607G>A (p.Val203Ile)	ACAD8 (V203I)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1428276	NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly)	ACAD8 (R79G)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1407116	NM_014384.3(ACAD8):c.443C>T (p.Pro148Leu)	ACAD8 (P148L)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1403552	NM_014384.3(ACAD8):c.121C>A (p.Leu41Ile)	ACAD8 (L41I)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1397234	NM_014384.3(ACAD8):c.611T>C (p.Met204Thr)	ACAD8 (M204T)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1396991	NM_014384.3(ACAD8):c.422A>G (p.Gln141Arg)	ACAD8 (Q141R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1388287	NM_014384.3(ACAD8):c.584C>A (p.Ala195Asp)	ACAD8 (A195D)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1379036	NM_014384.3(ACAD8):c.841+6A>C	ACAD8	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1376818	NM_014384.3(ACAD8):c.32C>T (p.Ala11Val)	ACAD8 (A11V)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1353097	NM_014384.3(ACAD8):c.965T>G (p.Met322Arg)	ACAD8 (M322R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1349878	NM_014384.3(ACAD8):c.85C>T (p.Arg29Trp)	ACAD8 (R29W)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1347962	NM_014384.3(ACAD8):c.782G>A (p.Ser261Asn)	ACAD8 (S261N)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1328499	NM_014384.3(ACAD8):c.173G>A (p.Arg58Gln)	ACAD8 (R58Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1323839	NM_014384.3(ACAD8):c.1195+1G>A	ACAD8	Single nucleotide variant (splice donor variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1143250	NM_014384.3(ACAD8):c.557A>G (p.Asn186Ser)	ACAD8 (N186S)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1139584	NM_014384.3(ACAD8):c.27C>T (p.Phe9=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1127972	NM_014384.3(ACAD8):c.615C>T (p.Cys205=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1121965	NM_014384.3(ACAD8):c.1128C>T (p.Tyr376=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1118723	NM_014384.3(ACAD8):c.804T>C (p.Ile268=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1107235	NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)	ACAD8 (V388M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1093362	NM_014384.3(ACAD8):c.842-18G>A	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely benign
Select item 1069419	NM_014384.3(ACAD8):c.1092+1G>C	ACAD8	Single nucleotide variant (splice donor variant)	Deficiency of isobutyryl-CoA dehydrogenase	GPathogenic
Select item 1061237	NM_014384.3(ACAD8):c.1036G>A (p.Asp346Asn)	ACAD8 (D346N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1061082	NM_014384.3(ACAD8):c.290G>A (p.Gly97Glu)	ACAD8 (G97E)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1054621	NM_014384.3(ACAD8):c.948A>G (p.Gln316=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1047836	NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly)	ACAD8 (E398G)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1036940	NM_014384.3(ACAD8):c.64G>T (p.Val22Phe)	ACAD8 (V22F)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1035166	NM_014384.3(ACAD8):c.110-6C>T	ACAD8	Single nucleotide variant (intron variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1033692	NM_014384.3(ACAD8):c.763G>A (p.Val255Met)	ACAD8 (V255M)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1020439	NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser)	ACAD8 (Y378S)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1016575	NM_014384.3(ACAD8):c.1196-4_1196-2del	ACAD8	Deletion (splice acceptor variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1007659	NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg)	ACAD8 (Q385R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 1001998	NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys)	ACAD8 (N274K)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 967586	NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg)	ACAD8 (G180R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 965913	NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg)	ACAD8 (C362R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 955413	NM_014384.3(ACAD8):c.527C>G (p.Ala176Gly)	ACAD8 (A176G)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 952643	NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala)	ACAD8 (T114A)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 939292	NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln)	ACAD8 (R330Q)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 880206	NM_014384.3(ACAD8):c.*82G>C	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance

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