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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPIB, SNX22
(A214S)
Single nucleotide variant
(missense variant +2 more)
Osteogenesis imperfecta
GUncertain significance
PPIB, SNX22
(R190Q)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity