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Links from MedGen

Items: 1 to 100 of 474

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMGCL
(S142F)
Single nucleotide variant
(missense variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely pathogenic
HMGCL
Deletion
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
GALE, HMGCL
Deletion
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
GALE, HMGCL
Deletion
Deficiency of hydroxymethylglutaryl-CoA lyase
+1 more
GPathogenic
HMGCL
Deletion
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
HMGCL
Deletion
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
HMGCL
Deletion
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
GALE, HMGCL
Deletion
Deficiency of hydroxymethylglutaryl-CoA lyase
+1 more
GPathogenic
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Duplication
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
(L171fs +1 more)
Deletion
(frameshift variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
HMGCL
(A160fs)
Deletion
(frameshift variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(splice donor variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely pathogenic
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely pathogenic
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Deletion
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Deletion
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(splice acceptor variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely pathogenic
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
(I162fs)
Duplication
(frameshift variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
(T292fs +1 more)
Duplication
(frameshift variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Deletion
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GBenign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely pathogenic
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Microsatellite
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Deletion
(splice donor variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely pathogenic
HMGCL
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(splice donor variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely pathogenic
HMGCL
(T107fs)
Deletion
(frameshift variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
HMGCL
(D42G)
Single nucleotide variant
(missense variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely pathogenic
HMGCL
(K48N)
Single nucleotide variant
(missense variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic
HMGCL
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
(G218D +1 more)
Single nucleotide variant
(missense variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GUncertain significance
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(synonymous variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely benign
HMGCL
Single nucleotide variant
(intron variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GUncertain significance
HMGCL
(G39D)
Single nucleotide variant
(missense variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GUncertain significance
HMGCL
(S24*)
Single nucleotide variant
(nonsense)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely pathogenic
HMGCL
(G218fs +1 more)
Deletion
(frameshift variant)
Deficiency of hydroxymethylglutaryl-CoA lyase
GPathogenic/Likely pathogenic
HMGCL
(C174Y)
Single nucleotide variant
(missense variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
GLikely pathogenic
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