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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
(V679fs +3 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
KCNQ2
(R581* +3 more)
Single nucleotide variant
(nonsense)
KCNQ2-related disorder
+4 more
GPathogenic
KCNQ2
(P530S +3 more)
Single nucleotide variant
(missense variant)
KCNQ2-related disorder
GPathogenic
KCNQ2
(L351V)
Single nucleotide variant
(missense variant)
Epilepsy, benign neonatal, 1, and/or myokymia
GLikely pathogenic
KCNQ2
(R333W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
KCNQ2
(L307P)
Single nucleotide variant
(missense variant)
KCNQ2-related disorder
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(A294V)
Single nucleotide variant
(missense variant)
KCNQ2-related disorder
+5 more
GPathogenic
KCNQ2
(L292P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
+1 more
GLikely pathogenic
KCNQ2
(T277I)
Single nucleotide variant
(missense variant)
KCNQ2-related disorder
GPathogenic
KCNQ2
(L243V)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
KCNQ2
(R210H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
KCNQ2
(R144G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 7
+2 more
GPathogenic/Likely pathogenic
KCNQ2
(K49fs)
Duplication
(frameshift variant)
KCNQ2-related disorder
+1 more
GPathogenic/Likely pathogenic
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