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Links from Gene

Items: 1 to 100 of 164

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
(P114L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(G7E)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
Single nucleotide variant
(non-coding transcript variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(intron variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
(R25H)
Single nucleotide variant
(non-coding transcript variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(R10L)
Indel
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
(R10G)
Indel
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
LOC126863087, CHRNA4
(R99C)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(G7R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(P9S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(P13L)
Single nucleotide variant
(non-coding transcript variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
(R112H)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
(N127S)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
(N80K)
Single nucleotide variant
(missense variant +2 more)
CHRNA4-related disorder
GUncertain significance
CHRNA4
(C357S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
GUncertain significance
CHRNA4
(S186F +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
GUncertain significance
CHRNA4
(P350L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
GUncertain significance
CHRNA4, LOC126863087
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
Duplication
(intron variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
(N128del)
Microsatellite
(inframe_deletion +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
(T109A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CHRNA4, LOC126863087
(V87L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
LOC126863087, CHRNA4
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
LOC100130587, CHRNA4
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
LOC100130587, CHRNA4
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
(W88*)
Single nucleotide variant
(nonsense +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
(E116D)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(L3Q)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(E2Q)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(R10G)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
Duplication
(5 prime UTR variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
Microsatellite
(inframe_insertion +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(M1L)
Single nucleotide variant
(missense variant +3 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(G5fs)
Deletion
(frameshift variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
(M1T)
Single nucleotide variant
(missense variant +3 more)
CHRNA4-related disorder
+2 more
GUncertain significance
CHRNA4, LOC100130587
Deletion
(inframe_deletion +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA4, LOC100130587
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CHRNA4, LOC100130587
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA4, LOC100130587
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHRNA4, LOC126863087
(N86K)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CHRNA4, LOC100130587
(L3R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA4, LOC100130587
(P6A)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
CHRNA4-related disorder
+1 more
GLikely benign
CHRNA4, LOC100130587
Single nucleotide variant
(non-coding transcript variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC100130587
(R25C)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4, LOC126863087
(I123V)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
(G5V)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
(R112C)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
(P102L)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC100130587
Single nucleotide variant
(intron variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4, LOC126863087
(M82T)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
GUncertain significance
CHRNA4, LOC126863087
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA4, LOC126863087
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GLikely benign
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