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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ3
(N821S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KCNQ3
(R780C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNQ3
(D755N +1 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 2
+4 more
GBenign/Likely benign
KCNQ3
(P574S +1 more)
Single nucleotide variant
(missense variant)
KCNQ3-related condition
+7 more
GBenign/Likely benign
KCNQ3
(G433R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KCNQ3
(N468S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KCNQ3
(E414G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign
KCNQ3
(R244H +1 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 2
+2 more
GPathogenic/Likely pathogenic
KCNQ3
(R210L +1 more)
Single nucleotide variant
(missense variant)
Benign neonatal seizures
GPathogenic
KCNQ3
(R210H +1 more)
Single nucleotide variant
(missense variant)
Benign neonatal seizures
+2 more
GPathogenic/Likely pathogenic
KCNQ3
(R330C +1 more)
Single nucleotide variant
(missense variant)
Benign neonatal seizures
+2 more
GPathogenic/Likely pathogenic
KCNQ3
(I317T +1 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial neonatal, 2
+2 more
GPathogenic/Likely pathogenic
KCNQ3
(D305G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KCNQ3
(R230C +1 more)
Single nucleotide variant
(missense variant)
KCNQ3-related developmental disability
+8 more
GPathogenic/Likely pathogenic
KCNQ3
(R107Q +1 more)
Single nucleotide variant
(missense variant)
Benign neonatal seizures
+2 more
GConflicting classifications of pathogenicity
KCNQ2
(K116del)
Deletion
(inframe_deletion)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
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