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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPD1
(G12R)
Single nucleotide variant
(missense variant)
Transient infantile hypertriglyceridemia and hepatosteatosis
GUncertain significance
GPD1
(G121R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GPD1
(M121T +1 more)
Single nucleotide variant
(missense variant)
Transient infantile hypertriglyceridemia and hepatosteatosis
+1 more
GConflicting classifications of pathogenicity
GPD1
(E308K +1 more)
Single nucleotide variant
(missense variant)
Transient infantile hypertriglyceridemia and hepatosteatosis
+1 more
GUncertain significance
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