U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFHC1
(I315F +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
GUncertain significance
EFHC1
(R366C +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
Single nucleotide variant
(intron variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination