U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
(A723P +4 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
GUncertain significance
KCNQ2
Single nucleotide variant
(splice donor variant)
Seizures, benign familial neonatal, 1
+1 more
GUncertain significance
KCNQ2
(S491N +3 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 1
GUncertain significance
KCNQ2
(S247L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination