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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL1A1
(G1190fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
COL1A1
(P1165fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
+1 more
GPathogenic
COL1A1
(G842fs)
Deletion
(frameshift variant)
COL1A1-related disorder
+2 more
GPathogenic
COL1A1
(G641fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
(P556fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type I
+7 more
GPathogenic
COL1A1
Single nucleotide variant
(splice donor variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic
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