"GeneDx"[submitter] AND "ACAD8"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 368944	NM_014384.2(ACAD8):c.-67G>A	ACAD8	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 430159	NM_014384.3(ACAD8):c.3G>T (p.Met1Ile)	ACAD8 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 418783	NM_014384.3(ACAD8):c.46_52del (p.Leu16fs)	ACAD8 (L16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 673122	NM_014384.3(ACAD8):c.109+133G>C	ACAD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274539	NM_014384.3(ACAD8):c.109+259C>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673123	NM_014384.3(ACAD8):c.110-174A>G	ACAD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180185	NM_014384.3(ACAD8):c.210+25C>T	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223942	NM_014384.3(ACAD8):c.210+70T>C	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273338	NM_014384.3(ACAD8):c.210+209G>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430160	NM_014384.3(ACAD8):c.233T>C (p.Met78Thr)	ACAD8 (M78T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314772	NM_014384.3(ACAD8):c.260G>A (p.Gly87Glu)	ACAD8 (G87E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2229936	NM_014384.3(ACAD8):c.305G>A (p.Arg102His)	ACAD8 (R102H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 303674	NM_014384.3(ACAD8):c.337G>A (p.Ala113Thr)	ACAD8 (A113T)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 1250406	NM_014384.3(ACAD8):c.380+285T>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230188	NM_014384.3(ACAD8):c.381-231G>C	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234911	NM_014384.3(ACAD8):c.381-215T>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177918	NM_014384.3(ACAD8):c.381-96G>T	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95585	NM_014384.3(ACAD8):c.384G>A (p.Met128Ile)	ACAD8	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 424140	NM_014384.3(ACAD8):c.386G>A (p.Cys129Tyr)	ACAD8 (C129Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 95586	NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)	ACAD8	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 741347	NM_014384.3(ACAD8):c.408C>T (p.Phe136=)	ACAD8	Single nucleotide variant (synonymous variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GBenign/Likely benign
Select item 468863	NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg)	ACAD8 (G137R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 392312	NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys)	ACAD8 (Y158C)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 1244582	NM_014384.3(ACAD8):c.490+141G>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673124	NM_014384.3(ACAD8):c.491-36T>C	ACAD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673126	NM_014384.3(ACAD8):c.491-35C>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 95589	NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys)	ACAD8	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +2 more	GBenign/Likely benign
Select item 372296	NM_014384.3(ACAD8):c.567+1G>A	ACAD8	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1278325	NM_014384.3(ACAD8):c.567+93C>T	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263228	NM_014384.3(ACAD8):c.567+208T>C	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256748	NM_014384.3(ACAD8):c.567+258G>T	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265484	NM_014384.3(ACAD8):c.568-63T>C	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310239	NM_014384.3(ACAD8):c.617G>A (p.Arg206Gln)	ACAD8 (R206Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252274	NM_014384.3(ACAD8):c.706-130C>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232870	NM_014384.3(ACAD8):c.706-68C>T	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233288	NM_014384.3(ACAD8):c.706-51G>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 496850	NM_014384.3(ACAD8):c.706-21G>A	ACAD8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1201254	NM_014384.3(ACAD8):c.915dup (p.Gly306fs)	ACAD8 (G306fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1179511	NM_014384.3(ACAD8):c.939+130G>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243909	NM_014384.3(ACAD8):c.939+156T>C	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286290	NM_014384.3(ACAD8):c.940-182C>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287409	NM_014384.3(ACAD8):c.940-123A>G	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3001539	NM_014384.3(ACAD8):c.940-13C>G	ACAD8	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 372297	NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)	ACAD8 (A320T)	Single nucleotide variant (missense variant)	ACAD8-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 5357	NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)	ACAD8 (R330W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1308041	NM_014384.3(ACAD8):c.1058T>C (p.Met353Thr)	ACAD8 (M353T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289851	NM_014384.3(ACAD8):c.1092+79A>C	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247681	NM_014384.3(ACAD8):c.1093-257C>T	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249725	NM_014384.3(ACAD8):c.1093-153A>T	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259974	NM_014384.3(ACAD8):c.1093-80G>C	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 496851	NM_014384.3(ACAD8):c.1093-22T>C	ACAD8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 5356	NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)	ACAD8	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
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 448979	NM_014384.3(ACAD8):c.1195+1G>C	ACAD8	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1250568	NM_014384.3(ACAD8):c.1195+43G>A	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270954	NM_014384.3(ACAD8):c.1195+164G>C	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237510	NM_014384.3(ACAD8):c.1195+188C>T	ACAD8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 877414	NM_014384.3(ACAD8):c.*190C>T	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GBenign
Select item 877415	NM_014384.3(ACAD8):c.*195G>C	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GBenign
Select item 877416	NM_014384.3(ACAD8):c.*202A>C	ACAD8	Single nucleotide variant (3 prime UTR variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GBenign
Select item 303689	NM_014384.3(ACAD8):c.*277C>T	ACAD8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253940	GRCh37/hg19 11q25(chr11:134019210-134746628)x3	GLB1L2, ACAD8 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253565	GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1	NTM, NFRKB +32 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic

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Items: 67