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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A1
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL1A1
(P376fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A1, LOC126862586
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta type I
GPathogenic
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