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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLOC1S6
Duplication
(intron variant)
Autoinflammatory syndrome
+1 more
GBenign
BLOC1S6
(R172S +1 more)
Single nucleotide variant
(missense variant +2 more)
Hermansky-Pudlak syndrome 9
+1 more
GUncertain significance