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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1H
(R1572W)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+4 more
GConflicting classifications of pathogenicity
CACNA1H
(V1937M +1 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+3 more
GConflicting classifications of pathogenicity