"GeneDx"[submitter] AND "ACADS"[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 1288636	NC_000012.12:g.120725458C>T	ACADS	Single nucleotide variant	not provided	GBenign
Select item 1280099	NC_000012.12:g.120725537G>T	ACADS	Single nucleotide variant	not provided	GBenign
Select item 1221207	NC_000012.12:g.120725570T>C	ACADS	Single nucleotide variant	not provided	GBenign
Select item 1243462	NC_000012.12:g.120725715C>A	ACADS	Single nucleotide variant	not provided	GBenign
Select item 1326192	NC_000012.12:g.120725739G>A	ACADS	Single nucleotide variant	not provided	GLikely benign
Select item 1182840	NM_000017.4(ACADS):c.47-177C>T	ACADS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3825	NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)	ACADS (R46W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2580021	NM_000017.4(ACADS):c.154_156del (p.Glu52del)	ACADS (E52del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1227014	NM_000017.4(ACADS):c.211-24C>T	ACADS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419056	NM_000017.4(ACADS):c.238del (p.Leu80fs)	ACADS (L80fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1307540	NM_000017.4(ACADS):c.250G>A (p.Val84Met)	ACADS (V84M)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 427168	NM_000017.4(ACADS):c.302C>T (p.Ala101Val)	ACADS (A101V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3833	NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del)	ACADS (E104del)	Microsatellite (inframe_deletion)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic
Select item 429795	NM_000017.4(ACADS):c.313A>T (p.Ile105Phe)	ACADS (I105F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 421618	NM_000017.4(ACADS):c.319_321delinsTGC (p.Arg107Cys)	ACADS (R107C)	Indel (missense variant)	not provided	GPathogenic
Select item 3826	NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)	ACADS (R107C)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +2 more	GPathogenic
Select item 136259	NM_000017.4(ACADS):c.321T>C (p.Arg107=)	ACADS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 377421	NM_000017.4(ACADS):c.322G>A (p.Gly108Ser)	ACADS (G108S)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 552519	NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer)	ACADS	Deletion (inframe_indel)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 432099	NM_000017.4(ACADS):c.328G>A (p.Ala110Thr)	ACADS (A110T)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 196197	NM_000017.4(ACADS):c.360C>T (p.Asn120=)	ACADS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 370525	NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter)	ACADS (Y123*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 197092	NM_000017.4(ACADS):c.423G>A (p.Thr141=)	ACADS	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 420094	NM_000017.4(ACADS):c.425C>G (p.Pro142Arg)	ACADS (P142R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 393131	NM_000017.4(ACADS):c.449G>T (p.Gly150Val)	ACADS (G150V)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 389937	NM_000017.4(ACADS):c.461T>G (p.Leu154Arg)	ACADS (L154R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 307436	NM_000017.4(ACADS):c.465C>T (p.Ser155=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 1199727	NM_000017.4(ACADS):c.473-155C>A	ACADS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202041	NM_000017.4(ACADS):c.473-149T>G	ACADS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676089	NM_000017.4(ACADS):c.473-116T>C	ACADS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270170	NM_000017.4(ACADS):c.473-80G>C	ACADS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210845	NM_000017.4(ACADS):c.473-78G>A	ACADS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250307	NM_000017.4(ACADS):c.473-30G>A	ACADS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1992290	NM_000017.4(ACADS):c.477C>A (p.Asn159Lys)	ACADS (N159K)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 203553	NM_000017.4(ACADS):c.481A>G (p.Ser161Gly)	ACADS (S161G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 953991	NM_000017.4(ACADS):c.492_513del (p.Ala165fs)	ACADS (A165fs)	Deletion (frameshift variant +1 more)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic
Select item 3830	NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)	ACADS (R171W)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase +1 more	GBenign/Likely benign
Select item 3828	NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	ACADS (W177R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3834	NM_000017.4(ACADS):c.575C>T (p.Ala192Val)	ACADS (A192V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 623120	NM_000017.4(ACADS):c.596C>T (p.Ala199Val)	ACADS (A199V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 307438	NM_000017.4(ACADS):c.624+8C>T	ACADS	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1188992	NM_000017.4(ACADS):c.625-99T>C	ACADS (L202P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1207367	NM_000017.4(ACADS):c.625-83G>A	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GBenign/Likely benign
Select item 3831	NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)	ACADS (G209S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1305047	NM_000017.4(ACADS):c.650T>C (p.Met217Thr)	ACADS (M213T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307143	NM_000017.4(ACADS):c.656C>G (p.Thr219Arg)	ACADS (T215R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189093	NM_000017.4(ACADS):c.682_683del (p.Glu228fs)	ACADS (E224fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2575010	NM_000017.4(ACADS):c.721C>A (p.Leu241Ile)	ACADS (L237I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193318	NM_000017.4(ACADS):c.795+1G>A	ACADS	Single nucleotide variant (splice donor variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 307440	NM_000017.4(ACADS):c.796-14G>C	ACADS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 203555	NM_000017.4(ACADS):c.812G>T (p.Gly271Val)	ACADS (G271V +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 377422	NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)	ACADS (R272C +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 203556	NM_000017.4(ACADS):c.815G>A (p.Arg272His)	ACADS (R272H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 280061	NM_000017.4(ACADS):c.820G>A (p.Gly274Ser)	ACADS (G274S +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 1201939	NM_000017.4(ACADS):c.880G>A (p.Ala294Thr)	ACADS (A290T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266212	NM_000017.4(ACADS):c.934-74C>T	ACADS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210802	NM_000017.4(ACADS):c.944_946del (p.Ala315del)	ACADS (A311del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3835	NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)	ACADS (R325W +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 450631	NM_000017.4(ACADS):c.974G>A (p.Arg325Gln)	ACADS (R325Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 203569	NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys)	ACADS (R326C +1 more)	Indel (missense variant)	Deficiency of butyryl-CoA dehydrogenase +2 more	GPathogenic/Likely pathogenic
Select item 203557	NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)	ACADS (R330C +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 431801	NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His)	ACADS (R326H +1 more)	Indel (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 136260	NM_000017.4(ACADS):c.990C>T (p.Arg330=)	ACADS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3343186	NM_000017.4(ACADS):c.1006G>T (p.Asp336Tyr)	ACADS (D332Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191695	NM_000017.4(ACADS):c.1029+36G>A	ACADS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245978	NM_000017.4(ACADS):c.1029+52C>T	ACADS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269896	NM_000017.4(ACADS):c.1029+89dup	ACADS	Duplication (intron variant)	not provided	GBenign
Select item 1177935	NM_000017.4(ACADS):c.1030-41G>A	ACADS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432218	NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)	ACADS (A352T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3836	NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)	ACADS (S353L +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 203560	NM_000017.4(ACADS):c.1095G>T (p.Gln365His)	ACADS (Q365H +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 203561	NM_000017.4(ACADS):c.1105G>A (p.Gly369Ser)	ACADS (G369S +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 203562	NM_000017.4(ACADS):c.1108A>G (p.Met370Val)	ACADS (M370V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 203563	NM_000017.4(ACADS):c.1112G>T (p.Gly371Val)	ACADS (G371V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 427142	NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu)	ACADS (P377L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3837	NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)	ACADS (R380W +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 3829	NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)	ACADS (R383C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 379779	NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser)	ACADS (A385S +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 203566	NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)	ACADS (R386C +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 377423	NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)	ACADS (Q398* +1 more)	Single nucleotide variant (nonsense)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 254693	NM_000017.4(ACADS):c.*4C>T	ACADS	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 193540	NM_000017.4(ACADS):c.*5G>A	ACADS	Single nucleotide variant (3 prime UTR variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GBenign
Select item 254692	NM_000017.4(ACADS):c.*21G>C	ACADS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 307445	NM_000017.4(ACADS):c.*115G>A	ACADS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 307448	NM_000017.4(ACADS):c.*249G>A	ACADS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307450	NM_000017.4(ACADS):c.*310C>G	ACADS	Single nucleotide variant (3 prime UTR variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GBenign

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Items: 88