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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB27A
(R187Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
RAB27A
(W113R)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(A87T)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GUncertain significance
RAB27A
(T41A)
Single nucleotide variant
(missense variant)
Griscelli syndrome type 2
GConflicting classifications of pathogenicity
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