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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNT1
(G288S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+2 more
GPathogenic
KCNT1
(R428Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+3 more
GPathogenic
KCNT1
(R474C +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
+2 more
GPathogenic
KCNT1
(C732S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 14
GUncertain significance
KCNT1
(R928C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 5
+2 more
GPathogenic
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