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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS3
(F44L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS3
(Y75F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HPS3
(S133L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HPS3
(H444N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HPS3
(T591M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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