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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS1
Single nucleotide variant
(3 prime UTR variant)
Hermansky-Pudlak syndrome 1
+2 more
GBenign/Likely benign
HPS1
(R137Q +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign