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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ2
(I592M +3 more)
Single nucleotide variant
(missense variant)
Benign Rolandic epilepsy
Gnot provided
KCNQ2
(F305del)
Microsatellite
(inframe_deletion)
Seizures, benign familial neonatal, 1
+6 more
GPathogenic/Likely pathogenic