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Links from MedGen

Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(S424L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA4
(A502S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA4
(I196fs +1 more)
Insertion
(frameshift variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
GLikely pathogenic
CHRNA4
(S363L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GConflicting classifications of pathogenicity
CHRNA4
(I229M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GUncertain significance
CHRNA4, LOC126863087
(E116D)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(P216L +1 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 94
+1 more
GUncertain significance
CHRNA4
(Q150K)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
CHRNA4
(N153S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA4
(S160C)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
GUncertain significance
CHRNA4
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GBenign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA4
(E405K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GConflicting classifications of pathogenicity
CHRNA4
(S297N +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GUncertain significance
CHRNA4
(F66L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA4
(K183E +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA4
(W167C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CHRNA4
(I313T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA4, LOC126863087
(M82T)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
GUncertain significance
CHRNA4, LOC100130587
(G5S)
Single nucleotide variant
(missense variant +2 more)
Tobacco addiction, susceptibility to
+2 more
GConflicting classifications of pathogenicity
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Tobacco addiction, susceptibility to
+2 more
GLikely benign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+1 more
GBenign
CHRNA4
(R483W +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA4
(T166S)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
GUncertain significance
CHRNA4
(A214T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+1 more
GConflicting classifications of pathogenicity
CHRNA4
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CHRNA4
(R566Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA4
(P556R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+3 more
GConflicting classifications of pathogenicity
CHRNA4
(P452S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CHRNA4
(E228K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+2 more
GUncertain significance
CHRNA4
(I598V +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+2 more
GUncertain significance
CHRNA4, LOC100130587
Duplication
(inframe_insertion +2 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CHRNA4
(R369Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+3 more
GConflicting classifications of pathogenicity
CHRNA4
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GBenign/Likely benign
CHRNA4
(R354C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GUncertain significance
CHRNA4
(A457T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CHRNA4
(A499T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CHRNA4, LOC126863087
(R120W)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+3 more
GConflicting classifications of pathogenicity
CHRNA4, LOC126863087
(R99H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CHRNA4, LOC126863087
(E92Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
CHRNA4
(P621T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GConflicting classifications of pathogenicity
CHRNA4
(R483Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+4 more
GConflicting classifications of pathogenicity
CHRNA4
(A477V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CHRNA4
(K439T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GConflicting classifications of pathogenicity
CHRNA4
(R336C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CHRNA4
(G307S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CHRNA4, LOC100130587
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
not specified
+5 more
GBenign/Likely benign
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+4 more
GBenign
CHRNA4
Single nucleotide variant
(synonymous variant +2 more)
not specified
+4 more
GBenign
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+1 more
GUncertain significance
CHRNA4
(R487Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GLikely benign
CHRNA4
(T395M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA4
(G390E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CHRNA4
(R370Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+4 more
GBenign
CHRNA4
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+3 more
GBenign
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+4 more
GBenign
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GBenign/Likely benign
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+4 more
GBenign
CHRNA4
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+4 more
GBenign
CHRNA4
Microsatellite
(inframe_insertion +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
GPathogenic
CHRNA4
(R336H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GBenign
CHRNA4
(S284L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+3 more
GPathogenic
CHRNA4
(S280F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GPathogenic
CHRNB2
(V287M)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+4 more
GPathogenic
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