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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMPD2
(E19* +3 more)
Single nucleotide variant
(nonsense)
Pontocerebellar hypoplasia type 9
GPathogenic
AMPD2
(R556L +3 more)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 9
GLikely pathogenic