U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMGCL
(F305fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
HMGCL
(H233R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
HMGCL
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
HMGCL
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMGCL
(R165Q)
Single nucleotide variant
(missense variant +1 more)
Deficiency of hydroxymethylglutaryl-CoA lyase
+2 more
GConflicting classifications of pathogenicity
HMGCL
(D61H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMGCL
(R41Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HMGCL
(E37*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
Format
Items per page
Sort by
Choose Destination