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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SP7
(Y48* +1 more)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 12
+1 more
GUncertain significance
SP7
(K46fs +1 more)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 12
+1 more
GUncertain significance
SP7
Deletion
(5 prime UTR variant +1 more)
Osteogenesis imperfecta type 12
+1 more
GLikely benign
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