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Items: 1 to 100 of 174

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADVL, LOC130060113
(S22* +1 more)
Single nucleotide variant
(nonsense +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL, LOC130060113
(Q30fs +1 more)
Deletion
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL, LOC130060113
(R60fs +1 more)
Microsatellite
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL, LOC130060113
(P58fs +1 more)
Deletion
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL, LOC130060113
(R37fs +1 more)
Duplication
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADVL, LOC130060113
(R37fs +1 more)
Deletion
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(splice acceptor variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(splice acceptor variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(A59fs +1 more)
Deletion
(frameshift variant +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADVL
(P88fs +1 more)
Duplication
(frameshift variant +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(K87fs +1 more)
Deletion
(frameshift variant +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(K67* +1 more)
Single nucleotide variant
(nonsense +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(F101fs +3 more)
Duplication
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G76E +2 more)
Single nucleotide variant
(missense variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
+2 more
GConflicting classifications of pathogenicity
ACADVL
(V110fs +3 more)
Indel
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(V87A +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(P89fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(P112S +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(V17M +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
Single nucleotide variant
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(Q123fs +3 more)
Microsatellite
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(Q100* +3 more)
Single nucleotide variant
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(V109fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(F112fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADVL
Single nucleotide variant
(intron variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
Single nucleotide variant
(splice acceptor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
Deletion
(splice acceptor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(N100fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(N122D +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(E130del +3 more)
Microsatellite
(inframe_deletion)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(T109fs +3 more)
Microsatellite
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(A65fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G143fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(Q145* +3 more)
Single nucleotide variant
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Deletion
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(A161T +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
(I144fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(L172P +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(V174M +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
ACADVL
(A180T +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(I184fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(G185S +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G193R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(E123fs +3 more)
Microsatellite
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(L126fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(Y125* +3 more)
Single nucleotide variant
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(L180V +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADVL
(L202P +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(S207P +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
(G186R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
Deletion
(splice acceptor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(T233fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADVL
(A213T +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+2 more
GPathogenic/Likely pathogenic
ACADVL
(A213P +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADVL
Deletion
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(I152fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(E218K +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G222R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(R229* +3 more)
Single nucleotide variant
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(T230fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(C161fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADVL
(C260fs +3 more)
Microsatellite
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(G169* +3 more)
Single nucleotide variant
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADVL
Single nucleotide variant
(splice acceptor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(splice acceptor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(I182T +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADVL
(T260M +3 more)
Single nucleotide variant
(missense variant)
Very long chain fatty acid accumulation
+2 more
GPathogenic/Likely pathogenic
ACADVL
(K188E +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(V191fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(E277del +3 more)
Deletion
(inframe_deletion)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
ACADVL
(K278del +3 more)
Microsatellite
(inframe_deletion)
ACADVL-related condition
+3 more
GPathogenic
ACADVL
(A205D +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(V283A +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(R309G +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(I215fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G289R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G214D +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
Single nucleotide variant
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Deletion
(splice acceptor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(P274fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G294E +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(P274fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(K299del +3 more)
Microsatellite
(inframe_deletion)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
ACADVL
(K223M +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(N230fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(E287fs +3 more)
Microsatellite
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(F235fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(R316Q +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADVL
(A257fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ACADVL
(A311fs +3 more)
Deletion
(frameshift variant)
Cardiac arrhythmia
+1 more
GPathogenic/Likely pathogenic
ACADVL
(M334R +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ACADVL
(A327T +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
(I356del +3 more)
Microsatellite
(inframe_deletion)
not specified
+2 more
GConflicting classifications of pathogenicity
ACADVL
(A359V +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GLikely pathogenic
ACADVL
Single nucleotide variant
(synonymous variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
Indel
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
Single nucleotide variant
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
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