ClinVar for MedGen (Select 90998) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244261	NC_000012.11:g.(?_121175482)_(121175653_?)del	ACADS	Deletion	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3244257	NC_000012.11:g.(?_121163689)_(121438995_?)del	ACADS, HNF1A +1 more	Deletion	Deficiency of butyryl-CoA dehydrogenase	GPathogenic
Select item 3065854	NM_000017.4(ACADS):c.1132del (p.Ala378fs)	ACADS (A374fs +1 more)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 3065241	NM_000017.4(ACADS):c.46+3G>C	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 3061796	NM_000017.4(ACADS):c.79A>C (p.Thr27Pro)	ACADS (T27P)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3010236	NM_000017.4(ACADS):c.931C>T (p.Gln311Ter)	ACADS (Q311* +1 more)	Single nucleotide variant (nonsense)	Deficiency of butyryl-CoA dehydrogenase	GPathogenic
Select item 3003858	NM_000017.4(ACADS):c.1179C>T (p.Gly393=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2980980	NM_000017.4(ACADS):c.361-10G>C	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2968272	NM_000017.4(ACADS):c.1170C>T (p.Ile390=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2919279	NM_000017.4(ACADS):c.817A>G (p.Ile273Val)	ACADS (I269V +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2919228	NM_000017.4(ACADS):c.670T>C (p.Leu224=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2917625	NM_000017.4(ACADS):c.46+9G>T	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2915557	NM_000017.4(ACADS):c.636C>T (p.Ala212=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2914138	NM_000017.4(ACADS):c.38C>T (p.Ala13Val)	ACADS (A13V)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2912097	NM_000017.4(ACADS):c.1029+18C>T	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2906654	NM_000017.4(ACADS):c.402G>A (p.Glu134=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2904796	NM_000017.4(ACADS):c.68G>C (p.Arg23Pro)	ACADS (R23P)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2902290	NM_000017.4(ACADS):c.842G>T (p.Gly281Val)	ACADS (G277V +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2901429	NM_000017.4(ACADS):c.796-12C>T	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2898792	NM_000017.4(ACADS):c.347T>C (p.Met116Thr)	ACADS (M116T)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2892591	NM_000017.4(ACADS):c.259G>A (p.Glu87Lys)	ACADS (E87K)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2892469	NM_000017.4(ACADS):c.47-17T>C	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2891601	NM_000017.4(ACADS):c.1077C>G (p.Ile359Met)	ACADS (I355M +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2890301	NM_000017.4(ACADS):c.87C>T (p.Tyr29=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2885581	NM_000017.4(ACADS):c.301G>A (p.Ala101Thr)	ACADS (A101T)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2879005	NM_000017.4(ACADS):c.989_990delinsTT (p.Arg330Leu)	ACADS (R326L +1 more)	Indel (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2869964	NM_000017.4(ACADS):c.360+19C>G	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2867626	NM_000017.4(ACADS):c.320_321inv (p.Arg107His)	ACADS (R107H)	Inversion (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2857623	NM_000017.4(ACADS):c.126C>G (p.Leu42=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2846752	NM_000017.4(ACADS):c.211-2A>G	ACADS	Single nucleotide variant (splice acceptor variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2826363	NM_000017.4(ACADS):c.862G>T (p.Asp288Tyr)	ACADS (D288Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2825164	NM_000017.4(ACADS):c.472+1G>T	ACADS	Single nucleotide variant (splice donor variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2809418	NM_000017.4(ACADS):c.243C>T (p.Ala81=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2799535	NM_000017.4(ACADS):c.612C>A (p.Ala204=)	ACADS	Single nucleotide variant (synonymous variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2796223	NM_000017.4(ACADS):c.352G>A (p.Val118Ile)	ACADS (V118I)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2789877	NM_000017.4(ACADS):c.432C>T (p.Thr144=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2789764	NM_000017.4(ACADS):c.226G>T (p.Gly76Trp)	ACADS (G76W)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2749463	NM_000017.4(ACADS):c.897C>A (p.Ala299=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2741889	NM_000017.4(ACADS):c.361-20G>A	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2741008	NM_000017.4(ACADS):c.840G>T (p.Leu280=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2739433	NM_000017.4(ACADS):c.795+8C>T	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2737837	NM_000017.4(ACADS):c.557T>A (p.Ile186Asn)	ACADS (I186N)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2730827	NM_000017.4(ACADS):c.263T>G (p.Leu88Arg)	ACADS (L88R)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2716967	NM_000017.4(ACADS):c.625-10C>T	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2709405	NM_000017.4(ACADS):c.3G>A (p.Met1Ile)	ACADS (M1I)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GPathogenic
Select item 2705832	NM_000017.4(ACADS):c.624+19G>C	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2690826	NM_000017.4(ACADS):c.610G>C (p.Ala204Pro)	ACADS (A204P)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2682440	NM_000017.4(ACADS):c.879C>T (p.Tyr293=)	ACADS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2643399	NM_000017.4(ACADS):c.286C>T (p.Leu96=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GLikely benign
Select item 2585347	NM_000017.4(ACADS):c.691C>G (p.Leu231Val)	ACADS (L231V +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2501121	NM_000017.4(ACADS):c.2T>C (p.Met1Thr)	ACADS (M1T)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GPathogenic/Likely pathogenic
Select item 2438808	NM_000017.4(ACADS):c.360+49C>T	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2422135	NC_000012.11:g.(?_121163689)_(121177251_?)dup	ACADS	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2422134	NC_000012.11:g.(?_121174454)_(121176447_?)del	ACADS	Deletion	Deficiency of butyryl-CoA dehydrogenase	GPathogenic
Select item 2414742	NM_000017.4(ACADS):c.152A>G (p.Lys51Arg)	ACADS (K51R)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2201925	NM_000017.4(ACADS):c.413C>T (p.Ala138Val)	ACADS (A138V)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2201552	NM_000017.4(ACADS):c.489A>C (p.Ala163=)	ACADS	Single nucleotide variant (synonymous variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2199897	NM_000017.4(ACADS):c.267C>T (p.Gly89=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GLikely benign
Select item 2199208	NM_000017.4(ACADS):c.189A>T (p.Glu63Asp)	ACADS (E63D)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2199134	NM_000017.4(ACADS):c.1030-20G>A	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2199027	NM_000017.4(ACADS):c.478G>A (p.Gly160Ser)	ACADS (G160S)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2198914	NM_000017.4(ACADS):c.249C>T (p.Asp83=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GLikely benign
Select item 2195726	NM_000017.4(ACADS):c.151_153del (p.Lys51del)	ACADS (K51del)	Deletion (inframe_deletion)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2194702	NM_000017.4(ACADS):c.1072G>T (p.Ala358Ser)	ACADS (A354S +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2183246	NM_000017.4(ACADS):c.1025T>C (p.Ile342Thr)	ACADS (I338T +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2182725	NM_000017.4(ACADS):c.740G>T (p.Arg247Leu)	ACADS (R247L +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2180419	NM_000017.4(ACADS):c.359A>G (p.Asn120Ser)	ACADS (N120S)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2176226	NM_000017.4(ACADS):c.80C>T (p.Thr27Ile)	ACADS (T27I)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2172644	NM_000017.4(ACADS):c.86A>G (p.Tyr29Cys)	ACADS (Y29C)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2166347	NM_000017.4(ACADS):c.528A>C (p.Ser176=)	ACADS	Single nucleotide variant (synonymous variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2165100	NM_000017.4(ACADS):c.796C>G (p.Gln266Glu)	ACADS (Q262E +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2163675	NM_000017.4(ACADS):c.494C>T (p.Ala165Val)	ACADS (A165V)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2162215	NM_000017.4(ACADS):c.1116C>T (p.Tyr372=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2159840	NM_000017.4(ACADS):c.1131G>A (p.Pro377=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2157703	NM_000017.4(ACADS):c.603G>T (p.Thr201=)	ACADS	Single nucleotide variant (synonymous variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2157588	NM_000017.4(ACADS):c.244A>C (p.Met82Leu)	ACADS (M82L)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2151723	NM_000017.4(ACADS):c.861C>T (p.Leu287=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2150989	NM_000017.4(ACADS):c.1186G>A (p.Glu396Lys)	ACADS (E392K +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2146070	NM_000017.4(ACADS):c.1152C>T (p.Asp384=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2145867	NM_000017.4(ACADS):c.361-13G>A	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2145442	NM_000017.4(ACADS):c.796-11G>A	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2143859	NM_000017.4(ACADS):c.672G>A (p.Leu224=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2139681	NM_000017.4(ACADS):c.933+5T>C	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2136944	NM_000017.4(ACADS):c.473-7T>C	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2135706	NM_000017.4(ACADS):c.1086+19C>A	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2123599	NM_000017.4(ACADS):c.984C>T (p.Thr328=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2120621	NM_000017.4(ACADS):c.94G>A (p.Val32Met)	ACADS (V32M)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2119664	NM_000017.4(ACADS):c.683A>C (p.Glu228Ala)	ACADS (E228A +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2113502	NM_000017.4(ACADS):c.1226G>C (p.Ser409Thr)	ACADS (S405T +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2106917	NM_000017.4(ACADS):c.285C>T (p.Tyr95=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2104950	NM_000017.4(ACADS):c.624+19G>A	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2097015	NM_000017.4(ACADS):c.620A>G (p.Asn207Ser)	ACADS (N207S)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2093617	NM_000017.4(ACADS):c.360+8C>G	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2091034	NM_000017.4(ACADS):c.222G>A (p.Met74Ile)	ACADS (M74I)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2079797	NM_000017.4(ACADS):c.625-3C>T	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2073954	NM_000017.4(ACADS):c.294C>T (p.Tyr98=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2071776	NM_000017.4(ACADS):c.855C>T (p.Thr285=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2048321	NM_000017.4(ACADS):c.625-8C>A	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2039130	NM_000017.4(ACADS):c.88C>T (p.Gln30Ter)	ACADS (Q30*)	Single nucleotide variant (nonsense)	Deficiency of butyryl-CoA dehydrogenase	GPathogenic

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