"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ACACB"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1088444	NM_001093.4(ACACB):c.554G>A (p.Arg185His)	ACACB (R185H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 806933	NM_001093.4(ACACB):c.1467C>A (p.Ile489=)	ACACB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 730800	NM_001093.4(ACACB):c.1950C>T (p.Ala650=)	ACACB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 806934	NM_001093.4(ACACB):c.2890G>A (p.Asp964Asn)	ACACB (D964N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806935	NM_001093.4(ACACB):c.5362G>A (p.Val1788Met)	ACACB (V1788M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 708692	NM_001093.4(ACACB):c.5880A>G (p.Thr1960=)	ACACB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 806936	NM_001093.4(ACACB):c.6084C>T (p.Asp2028=)	ACACB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2643268	NM_001093.4(ACACB):c.6088A>G (p.Ile2030Val)	ACACB (I1765V +3 more)	Single nucleotide variant (missense variant)	ACACB-related condition +1 more	GBenign
Select item 2643269	NM_001093.4(ACACB):c.6749G>T (p.Arg2250Met)	ACACB (R1985M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2643270	NM_001093.4(ACACB):c.6963C>T (p.Thr2321=)	ACACB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign