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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A2
(Q23*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta with normal sclerae, dominant form
+4 more
Gnot provided
COL1A2
(V270I)
Single nucleotide variant
(missense variant)
not specified
+8 more
GBenign/Likely benign