U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
L2HGDH
(P302L)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
+1 more
GPathogenic/Likely pathogenic
L2HGDH
(Y123C)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GLikely pathogenic