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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNA4
(R336H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GBenign
CHRNA4
Microsatellite
(inframe_insertion +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 1
GPathogenic
CHRNA4
(S284L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic
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