U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFHC1
(M1V)
Single nucleotide variant
(missense variant +2 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GUncertain significance
EFHC1
(R23C +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GUncertain significance
EFHC1
(R51W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
EFHC1
(P77T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
EFHC1
(D209fs +1 more)
Deletion
(frameshift variant +1 more)
Absence seizure
+2 more
GUncertain significance
EFHC1
(R294C +1 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
+2 more
GUncertain significance
EFHC1
(N304S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
EFHC1
(I462T +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+4 more
GConflicting classifications of pathogenicity
EFHC1
(T451S +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+2 more
GUncertain significance
EFHC1
(N462K +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+2 more
GUncertain significance
EFHC1
(A590P +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GUncertain significance
EFHC1
(Y631C +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+2 more
GUncertain significance
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+3 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination