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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIPA
Single nucleotide variant
(synonymous variant)
LIPA-related condition
+6 more
GPathogenic/Likely pathogenic
LIPA
(G87V)
Single nucleotide variant
(missense variant +1 more)
Cholesteryl ester storage disease
+3 more
GPathogenic/Likely pathogenic