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Links from MedGen

Items: 1 to 100 of 385

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(P217S)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(I176F)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(F198L)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(D162E)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(S44G)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(L179F)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(A525T)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(L86F)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(A131T)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(I176M)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(F328S)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(V219M)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(T400N)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GPathogenic
KCNC1
Deletion
(inframe_deletion)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(G531S)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(I248V)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(I460V)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(A423V)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(A243D)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(L549F)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(R237L)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(R583K)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(T551P)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(T487R)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(Y236C)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(A360T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(I265V)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(M430I)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(R234C)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(T222M)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(A366S)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(T25I)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(S444F)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(T337P)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(P571S)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(M577I)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
+1 more
GLikely benign
KCNC1
(Y554*)
Single nucleotide variant
(nonsense)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(P545S)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(G402S)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
+1 more
GConflicting classifications of pathogenicity
KCNC1
(R536P)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(N516D)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(S341R)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GLikely pathogenic
KCNC1
(M262T)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Duplication
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(R214S)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(A501P)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(S24W)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(G424A)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(S160F)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(E213K)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
+1 more
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(H45R)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(D147N)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KCNC1
(I363V)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
KCNC1
(K457M)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(A353V)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
(K458Q)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy type 7
GUncertain significance
KCNC1
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 7
GLikely benign
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