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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCG5, DYNC2LI1
(R446*)
Single nucleotide variant
(nonsense +1 more)
Sitosterolemia
+5 more
GPathogenic/Likely pathogenic
ABCG5
(A98C)
Indel
(missense variant)
not provided
+2 more
GUncertain significance