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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNA4
(E405K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GConflicting classifications of pathogenicity
CHRNA4
(A499T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CHRNA4
(S297N +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+2 more
GUncertain significance
CHRNA4
(R369Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
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
(E228K +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
+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
ADRM1, ANKRD60
+86 more
Copy number gain
not provided
GPathogenic
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