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Links from MedGen

Items: 1 to 100 of 681

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IVD
(P261L +3 more)
Single nucleotide variant
(missense variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely pathogenic
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
(V256M +3 more)
Single nucleotide variant
(missense variant +1 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
(splice acceptor variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely pathogenic
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(H44P +1 more)
Single nucleotide variant
(missense variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
(M299fs +3 more)
Deletion
(frameshift variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
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
(synonymous variant +1 more)
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
(splice acceptor variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely pathogenic
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(splice acceptor variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely pathogenic
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
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
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Deletion
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 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
(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
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(G84S +3 more)
Single nucleotide variant
(missense variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
(T252fs +3 more)
Duplication
(frameshift variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(N342S +3 more)
Single nucleotide variant
(missense variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
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
(synonymous variant +1 more)
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
(synonymous variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
+1 more
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
(synonymous variant +1 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)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(A208fs +3 more)
Duplication
(frameshift variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(Y110H +3 more)
Single nucleotide variant
(missense variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GUncertain significance
IVD
Duplication
(nonsense +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
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
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 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)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Duplication
(splice donor variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(K39* +1 more)
Single nucleotide variant
(nonsense +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
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
(E82K)
Single nucleotide variant
(missense variant +1 more)
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
(V66fs +3 more)
Deletion
(frameshift variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
(K242* +3 more)
Indel
(nonsense +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
Single nucleotide variant
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(L87fs +3 more)
Deletion
(frameshift variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GPathogenic
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(5 prime UTR variant +2 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Deletion
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
(R84G)
Single nucleotide variant
(missense variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
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
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(intron variant)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
IVD
Single nucleotide variant
(synonymous variant +1 more)
Isovaleryl-CoA dehydrogenase deficiency
GLikely benign
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