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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GMPPB
(G350S +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
GMPPB
(R185H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GMPPB
(M175I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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