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Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADVL, DLG4
Duplication
(5 prime UTR variant +2 more)
not provided
+2 more
GBenign
ACADVL, DLG4
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ACADVL, DLG4
(L17F)
Single nucleotide variant
(5 prime UTR variant +3 more)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL, LOC130060113
(S22* +1 more)
Single nucleotide variant
(nonsense +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL, LOC130060113
(G43D +1 more)
Single nucleotide variant
(missense variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL, LOC130060113
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADVL
Single nucleotide variant
(synonymous variant +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely benign
ACADVL
(P65L +1 more)
Single nucleotide variant
(missense variant +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
(P91S +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACADVL
(Q98H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACADVL
(Q123fs +3 more)
Microsatellite
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(P108A +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GUncertain significance
ACADVL
(V109E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACADVL
Deletion
(splice acceptor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(E129K +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACADVL
(F142S +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(G143C +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACADVL
(V146L +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADVL
(G152D +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADVL
(E165D +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+2 more
GUncertain significance
ACADVL
(V174M +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADVL
(A180T +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(H181R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GUncertain significance
ACADVL
(F192S +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACADVL
(L202P +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(L202H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADVL
Single nucleotide variant
(intron variant)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
Single nucleotide variant
(synonymous variant)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
(A213T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ACADVL
(A213P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADVL
(F214V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADVL
(G222R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ACADVL
(G238V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACADVL
Single nucleotide variant
(splice acceptor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(A263T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACADVL
(K278del +3 more)
Microsatellite
(inframe_deletion)
Very long chain acyl-CoA dehydrogenase deficiency
+3 more
GConflicting classifications of pathogenicity
ACADVL
(V283A +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(I215fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G289E +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADVL
Microsatellite
(splice donor variant)
not provided
GUncertain significance
ACADVL
(K299del +3 more)
Microsatellite
(inframe_deletion)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
ACADVL
(V317A +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+2 more
GUncertain significance
ACADVL
(K331T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACADVL
(M334R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+2 more
GConflicting classifications of pathogenicity
ACADVL
(F342L +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ACADVL
Single nucleotide variant
(synonymous variant)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
(I356V +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
Indel
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(R366H +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(Q292P +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ACADVL
(F369S +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADVL
(R385W +3 more)
Single nucleotide variant
(missense variant)
ACADVL-related condition
+2 more
GConflicting classifications of pathogenicity
ACADVL
Single nucleotide variant
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(A402V +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GUncertain significance
ACADVL
(A425T +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ACADVL
(M364fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G439D +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADVL
(G441D +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(M443R +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADVL
(E449Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACADVL
(R450H +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(R453* +3 more)
Single nucleotide variant
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(R456C +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADVL
(R456H +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
(R459fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(T442fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(R469Q +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ACADVL
(L502V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ACADVL
(R511Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADVL
Single nucleotide variant
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G523R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ACADVL
(R531W +3 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
ACADVL
(E534K +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ACADVL
Single nucleotide variant
(intron variant)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
(R567Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADVL
(G571R +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADVL
(M578T +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ACADVL
(A585V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ACADVL
(E609K +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GUncertain significance
ACADVL
Single nucleotide variant
(synonymous variant)
ACADVL-related condition
+3 more
GConflicting classifications of pathogenicity
ACADVL
(R615Q +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely benign
ACADVL
Deletion
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
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