U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFHC1
(P5T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(P13S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(T15A)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
EFHC1
(F25L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(S28N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(N16S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(R22G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(R22Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(I47K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EFHC1
(G49R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
EFHC1
(R51Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(Q114R +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+2 more
GUncertain significance
EFHC1
(R151H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(R151L +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+2 more
GUncertain significance
EFHC1
(R140Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+2 more
GUncertain significance
EFHC1
(D187N +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+3 more
GUncertain significance
EFHC1
(V192I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
EFHC1
(E181K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(E181V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(R216Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
EFHC1
(Y204C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EFHC1
(F245L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(G238R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(R241W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
EFHC1
(T253M +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+2 more
GUncertain significance
EFHC1
(H279R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(R281W +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+2 more
GUncertain significance
EFHC1
(R266K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
EFHC1
(R277C +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+2 more
GUncertain significance
EFHC1
(N304S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
EFHC1
(T341A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(I342V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(Y365C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
EFHC1
(V425G +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+2 more
GUncertain significance
EFHC1
(R418G +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+2 more
GUncertain significance
EFHC1
(F421L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(A426T +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+2 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
(A523V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(A526T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(S528G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
EFHC1
(R561H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(V575M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(C603F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(M602V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(H605R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EFHC1
(I629T +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+2 more
GUncertain significance
EFHC1
(R636H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination