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Items: 1 to 100 of 214

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADVL, DLG4
Single nucleotide variant
(5 prime UTR variant +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL, DLG4
(Q13*)
Single nucleotide variant
(5 prime UTR variant +3 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL, DLG4
(L17F)
Single nucleotide variant
(5 prime UTR variant +3 more)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL, LOC130060113
Single nucleotide variant
(5 prime UTR variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL, LOC130060113
Single nucleotide variant
(5 prime UTR variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL, LOC130060113
Single nucleotide variant
(5 prime UTR variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL, LOC130060113
(S22* +1 more)
Single nucleotide variant
(nonsense +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL, LOC130060113
(R23Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL, LOC130060113
(L27fs +1 more)
Deletion
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL, LOC130060113
(R38fs +1 more)
Duplication
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL, LOC130060113
Single nucleotide variant
(synonymous variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely benign
ACADVL, LOC130060113
(P58fs +1 more)
Deletion
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL, LOC130060113
(P35fs +1 more)
Deletion
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL, LOC130060113
(R37W +1 more)
Single nucleotide variant
(missense variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL, LOC130060113
Single nucleotide variant
(synonymous variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely benign
ACADVL, LOC130060113
(G43fs +1 more)
Deletion
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
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
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL, LOC130060113
Duplication
(splice donor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(D50fs +1 more)
Microsatellite
(frameshift variant +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(S75* +1 more)
Single nucleotide variant
(nonsense +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely 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
Single nucleotide variant
(synonymous variant +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely benign
ACADVL
(K64* +1 more)
Single nucleotide variant
(nonsense +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(P65L +1 more)
Single nucleotide variant
(missense variant +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
(K67* +1 more)
Single nucleotide variant
(nonsense +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(synonymous variant +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(K71* +2 more)
Duplication
(nonsense +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(synonymous variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(D108fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
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
Single nucleotide variant
(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
GPathogenic
ACADVL
Single nucleotide variant
(splice acceptor 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
(V109fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(K81fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(K103R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(V106fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(F136fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(F113L +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
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
ACADVL
Single nucleotide variant
(intron variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
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
(E39* +3 more)
Single nucleotide variant
(nonsense)
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
(E108fs +3 more)
Deletion
(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
(G118E +3 more)
Single nucleotide variant
(missense 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
(F142S +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(L122V +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(Q145* +3 more)
Single nucleotide variant
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(P147S +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(Q159R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
Single nucleotide variant
(intron variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
Deletion
(intron variant)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
Deletion
(intron variant)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
(Y138* +3 more)
Single nucleotide variant
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(E143V +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(I144fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Deletion
(inframe_deletion)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(L172P +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(V174A +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(H105fs +3 more)
Duplication
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
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
(I113fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(G166S +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(G193R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(G193D +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
Single nucleotide variant
(synonymous variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely benign
ACADVL
(Y179C +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(Y201* +3 more)
Single nucleotide variant
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(L202P +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(intron variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
Single nucleotide variant
(intron variant)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
Deletion
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
(V189fs +3 more)
Microsatellite
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
Single nucleotide variant
(synonymous variant)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
(F138fs +3 more)
Deletion
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
Deletion
(nonsense)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(C139R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
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
Single nucleotide variant
(synonymous variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely benign
ACADVL
(G222R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(S201* +3 more)
Single nucleotide variant
(nonsense)
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
Single nucleotide variant
(synonymous variant)
Very long chain acyl-CoA dehydrogenase deficiency
GBenign
ACADVL
(C260fs +3 more)
Microsatellite
(frameshift variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
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