"Ambry Genetics"[submitter] AND "ACAD8"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134653	NM_014384.3(ACAD8):c.83A>G (p.His28Arg)	ACAD8 (H28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 2403306	NM_014384.3(ACAD8):c.236G>A (p.Arg79Gln)	ACAD8 (R79Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134627	NM_014384.3(ACAD8):c.305G>C (p.Arg102Pro)	ACAD8 (R102P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363723	NM_014384.3(ACAD8):c.305G>T (p.Arg102Leu)	ACAD8 (R102L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2318155	NM_014384.3(ACAD8):c.356C>T (p.Thr119Ile)	ACAD8 (T119I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466942	NM_014384.3(ACAD8):c.404G>C (p.Ser135Thr)	ACAD8 (S135T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2608391	NM_014384.3(ACAD8):c.449G>A (p.Cys150Tyr)	ACAD8 (C150Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260700	NM_014384.3(ACAD8):c.484G>A (p.Glu162Lys)	ACAD8 (E162K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260703	NM_014384.3(ACAD8):c.599T>A (p.Ile200Asn)	ACAD8 (I200N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 570341	NM_014384.3(ACAD8):c.734C>T (p.Ala245Val)	ACAD8 (A245V)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
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 2557513	NM_014384.3(ACAD8):c.911A>G (p.Gln304Arg)	ACAD8 (Q304R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 536741	NM_014384.3(ACAD8):c.1004A>G (p.Asn335Ser)	ACAD8 (N335S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 3134600	NM_014384.3(ACAD8):c.1054T>A (p.Ser352Thr)	ACAD8 (S352T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134601	NM_014384.3(ACAD8):c.1138A>C (p.Lys380Gln)	ACAD8 (K380Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 880204	NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr)	ACAD8 (A383T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3134607	NM_014384.3(ACAD8):c.1176G>T (p.Arg392Ser)	ACAD8 (R392S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic

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Items: 24