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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARV1, LOC129932761
(Q10R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 38
GUncertain significance
ARV1
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 38
GLikely pathogenic