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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A1
(R1014C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+7 more
GPathogenic
COL1A1
(R312C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+12 more
GPathogenic/Likely pathogenic