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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
P3H1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type 8
GPathogenic/Likely pathogenic
P3H1
(G191fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 8
GPathogenic