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Links from MedGen

Items: 1 to 100 of 1852

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNT1
(A200T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(Q355H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(A470fs +1 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
(E1100K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 14
+1 more
GLikely benign
KCNT1
(S492T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(A1181G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(S658L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(L769F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(T1176A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(E28del)
Deletion
(inframe_deletion)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Deletion
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(T1043R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Indel
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Deletion
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(M367L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(R493S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(P438R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Deletion
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GBenign
KCNT1
(I551M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(S537Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(Q382H +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(N1110S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(L660P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(G657fs +1 more)
Duplication
(frameshift variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(C97R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(A467T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(S871G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(E703* +1 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(N514H +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Insertion
(inframe_indel)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(R161L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(E202Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(S1015P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(Q151E +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(N558K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(L3F)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(I758V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(F864L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(C40R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(V270M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Deletion
(inframe_deletion)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(I580N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(F72L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(V84M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Duplication
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(N93S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Insertion
(inframe_insertion)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(P797L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(Q370H +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
(N24H)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(L484V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
(N60K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GUncertain significance
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
KCNT1
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+1 more
GLikely benign
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