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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB27A
(Q172fs)
Deletion
(frameshift variant)
Griscelli syndrome type 2
+2 more
GPathogenic
RAB27A
(F46C)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GPathogenic