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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS5
(T1098I +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
HPS5
(P564S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HPS5, LOC130005404
(M115I +1 more)
Single nucleotide variant
(missense variant +1 more)
HPS5-related condition
+4 more
GLikely benign
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