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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPD1
Single nucleotide variant
(splice donor variant)
Transient infantile hypertriglyceridemia and hepatosteatosis
GPathogenic
GPD1
(N199K +1 more)
Single nucleotide variant
(missense variant)
Transient infantile hypertriglyceridemia and hepatosteatosis
GUncertain significance