U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNPY3, CNPY3-GNMT
Microsatellite
(inframe_deletion +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CNPY3, CNPY3-GNMT
(G67S)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 60
+1 more
GUncertain significance
CNPY3, CNPY3-GNMT
(D81Y)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 60
GUncertain significance
CNPY3, CNPY3-GNMT
(E115K)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 60
GUncertain significance
CNPY3, CNPY3-GNMT
(G246S +2 more)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 60
GUncertain significance
CNPY3, CNPY3-GNMT
(K136R +2 more)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 60
GUncertain significance
Format
Items per page
Sort by
Choose Destination