"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACADS"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051502	NM_000017.4(ACADS):c.22C>A (p.Arg8=)	ACADS	Single nucleotide variant (synonymous variant)	ACADS-related disorder	GLikely benign
Select item 3825	NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)	ACADS (R46W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 283771	NM_000017.4(ACADS):c.147C>G (p.Ala49=)	ACADS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2630618	NM_000017.4(ACADS):c.194_200del (p.Leu65fs)	ACADS (L65fs)	Deletion (frameshift variant)	ACADS-related disorder	GLikely pathogenic
Select item 2198914	NM_000017.4(ACADS):c.249C>T (p.Asp83=)	ACADS	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 136259	NM_000017.4(ACADS):c.321T>C (p.Arg107=)	ACADS	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 884052	NM_000017.4(ACADS):c.327C>T (p.Cys109=)	ACADS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 203552	NM_000017.4(ACADS):c.332C>T (p.Ser111Phe)	ACADS (S111F)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 307435	NM_000017.4(ACADS):c.336C>T (p.Thr112=)	ACADS	Single nucleotide variant (synonymous variant)	ACADS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1434767	NM_000017.4(ACADS):c.337G>A (p.Gly113Arg)	ACADS (G113R)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 196197	NM_000017.4(ACADS):c.360C>T (p.Asn120=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GBenign
Select item 254694	NM_000017.4(ACADS):c.360+21C>G	ACADS	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2628852	NM_000017.4(ACADS):c.361-2A>T	ACADS	Single nucleotide variant (splice acceptor variant)	ACADS-related disorder	GLikely pathogenic
Select item 772709	NM_000017.4(ACADS):c.522C>T (p.Gly174=)	ACADS	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
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 3032187	NM_000017.4(ACADS):c.625-89G>A	ACADS	Single nucleotide variant (intron variant)	ACADS-related disorder	GLikely benign
Select item 1207367	NM_000017.4(ACADS):c.625-83G>A	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase +2 more	GBenign/Likely benign
Select item 722142	NM_000017.4(ACADS):c.654A>C (p.Pro218=)	ACADS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 722143	NM_000017.4(ACADS):c.655A>T (p.Thr219Ser)	ACADS (T215S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 728094	NM_000017.4(ACADS):c.663G>T (p.Gly221=)	ACADS	Single nucleotide variant (synonymous variant)	ACADS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 772442	NM_000017.4(ACADS):c.669G>A (p.Thr223=)	ACADS	Single nucleotide variant (synonymous variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 189093	NM_000017.4(ACADS):c.682_683del (p.Glu228fs)	ACADS (E224fs +1 more)	Deletion (frameshift variant)	ACADS-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1115516	NM_000017.4(ACADS):c.795+9G>A	ACADS	Single nucleotide variant (intron variant)	ACADS-related disorder +1 more	GLikely benign
Select item 2631279	NM_000017.4(ACADS):c.826del (p.Ala276fs)	ACADS (A272fs +1 more)	Deletion (frameshift variant)	ACADS-related disorder	GPathogenic
Select item 882156	NM_000017.4(ACADS):c.906G>A (p.Ala302=)	ACADS	Single nucleotide variant (synonymous variant)	ACADS-related disorder +1 more	GConflicting classifications of pathogenicity
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 136260	NM_000017.4(ACADS):c.990C>T (p.Arg330=)	ACADS	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 30612	NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	ACADS (E344G +1 more)	Single nucleotide variant (missense variant)	ACADS-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1548999	NM_000017.4(ACADS):c.1173C>T (p.Tyr391=)	ACADS	Single nucleotide variant (synonymous variant)	ACADS-related disorder +1 more	GLikely benign
Select item 703027	NM_000017.4(ACADS):c.1210G>A (p.Gly404Arg)	ACADS (G404R +1 more)	Single nucleotide variant (missense variant)	ACADS-related disorder +1 more	GLikely benign
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 254692	NM_000017.4(ACADS):c.*21G>C	ACADS	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32