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Links from MedGen

Items: 1 to 100 of 306

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(intron variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
(E176Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
GUncertain significance
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
(Q79H +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GUncertain significance
EFHC1
(I348fs +1 more)
Deletion
(frameshift variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GUncertain significance
EFHC1
(Y335C +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GUncertain significance
EFHC1
(D593H +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(G445A +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(V184F +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GUncertain significance
EFHC1
(V390I +1 more)
Single nucleotide variant
(missense variant +1 more)
Typical absence seizure
+1 more
GUncertain significance
EFHC1
(H7Q)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
GUncertain significance
EFHC1
Deletion
(non-coding transcript variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GBenign
EFHC1
Single nucleotide variant
(non-coding transcript variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GBenign
EFHC1
Single nucleotide variant
(intron variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(intron variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(intron variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(intron variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(intron variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(intron variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(intron variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(R134Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(D74H +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GUncertain significance
EFHC1
(L316R +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GUncertain significance
EFHC1
(R402C +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(M602I +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
GUncertain significance
EFHC1
(P506L +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(A501T +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(R118C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
EFHC1
(R23C +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(R241W +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+2 more
GUncertain significance
EFHC1
Single nucleotide variant
(splice acceptor variant)
Myoclonic epilepsy, juvenile, susceptibility to, 1
+1 more
GUncertain significance
EFHC1
(R438H +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
Single nucleotide variant
(intron variant)
Absence seizure
+1 more
GUncertain significance
EFHC1
(G608S +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(N439S +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(V537M +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(A88V +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(Q548* +1 more)
Single nucleotide variant
(nonsense +1 more)
Typical absence seizure
+1 more
GUncertain significance
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Typical absence seizure
+1 more
GUncertain significance
EFHC1
(T233R +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(Q522R +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(S586L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
EFHC1
(T225S +1 more)
Single nucleotide variant
(missense variant +1 more)
Typical absence seizure
+1 more
GUncertain significance
EFHC1
(T171I +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(H145Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(D253N +1 more)
Single nucleotide variant
(missense variant +1 more)
Typical absence seizure
+1 more
GUncertain significance
EFHC1
(E354* +1 more)
Single nucleotide variant
(nonsense +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
Single nucleotide variant
(intron variant)
Absence seizure
+1 more
GConflicting classifications of pathogenicity
EFHC1
(S235N +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(K415E +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(Q114R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
EFHC1
(S111G +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(R225* +1 more)
Single nucleotide variant
(nonsense +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(Q57R +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(R353Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(A50V +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(V26A +1 more)
Single nucleotide variant
(missense variant +1 more)
Typical absence seizure
+1 more
GUncertain significance
EFHC1
(M1V)
Single nucleotide variant
(missense variant +2 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(E498* +1 more)
Single nucleotide variant
(nonsense +1 more)
Typical absence seizure
+1 more
GUncertain significance
EFHC1
(T253M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
EFHC1
(I610S +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(A521T +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(R277C +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+2 more
GUncertain significance
EFHC1
(Y105C +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(D344G +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
Insertion
(nonsense +2 more)
Absence seizure
+1 more
GUncertain significance
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