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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS4
(R217* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
HPS4
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 4
+2 more
GConflicting classifications of pathogenicity