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Items: 1 to 100 of 715

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IVD
Single nucleotide variant
not provided
GLikely benign
IVD
Single nucleotide variant
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
not provided
GLikely benign
IVD
Single nucleotide variant
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
not specified
+1 more
GBenign/Likely benign
IVD
Single nucleotide variant
not specified
GLikely benign
IVD
Single nucleotide variant
(5 prime UTR variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
IVD
Single nucleotide variant
(5 prime UTR variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
(5 prime UTR variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
IVD
Single nucleotide variant
(5 prime UTR variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(M1L)
Single nucleotide variant
(missense variant +3 more)
not provided
GLikely pathogenic
IVD
(M1T)
Single nucleotide variant
(missense variant +3 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(A4V)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(R6Q)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(G9W)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(V12M)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(A13V)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Deletion
(nonsense +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely pathogenic
IVD
(W15*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely pathogenic
IVD
(R16S)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(R18W)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(L21fs)
Deletion
(frameshift variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
(P20L)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(F24S)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(H30Y)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GBenign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(V35fs)
Deletion
(frameshift variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
IVD
(D36G)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
(D37N)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(G41E)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely pathogenic
IVD
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(L42V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
IVD
(S43fs)
Duplication
(frameshift variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
(L42R)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
(L42Q)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
(L42P)
Single nucleotide variant
(missense variant +2 more)
Isovaleric acidemia, type I
GPathogenic
IVD
Single nucleotide variant
(non-coding transcript variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(S43R)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
(E45K)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
(Q46R)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
(Q46L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IVD
(Q48E)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Single nucleotide variant
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
Single nucleotide variant
(splice donor variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely pathogenic
IVD
Single nucleotide variant
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Microsatellite
(5 prime UTR variant +2 more)
not provided
GLikely benign
IVD
Microsatellite
(5 prime UTR variant +2 more)
not provided
GBenign
IVD
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
IVD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(L33I +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(R50G +1 more)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
(R34C +1 more)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
IVD
(R34L +1 more)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely pathogenic
IVD
(R50H +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
IVD
(R50P +1 more)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
IVD
(Q51fs +1 more)
Deletion
(frameshift variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(A54fs +1 more)
Duplication
(frameshift variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely pathogenic
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