U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UGDH
(Y367C +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 84
+1 more
GPathogenic/Likely pathogenic
UGDH
(R317Q +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 84
GPathogenic/Likely pathogenic
UGDH
(A82T)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 84
+1 more
GPathogenic/Likely pathogenic
UGDH
(S72A)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 84
+1 more
GPathogenic/Likely pathogenic
UGDH
(R65*)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy, 84
GPathogenic
UGDH
(A44V)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 84
+1 more
GLikely pathogenic
UGDH
(Y14C)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 84
+2 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination