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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta with normal sclerae, dominant form
+2 more
GConflicting classifications of pathogenicity
COL1A1
(G365V)
Single nucleotide variant
(missense variant)
COL1A1-related condition
+5 more
GPathogenic/Likely pathogenic