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Items: 5

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
(R538* +1 more)
Single nucleotide variant
(nonsense +1 more)
Juvenile myoclonic epilepsy
GConflicting classifications of pathogenicity
EFHC1
Single nucleotide variant
(intron variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GConflicting classifications of pathogenicity
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
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