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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINF1
(E27fs)
Duplication
(frameshift variant +1 more)
Osteogenesis imperfecta type 6
GPathogenic
LOC130059892, SERPINF1
(S93P)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
(F277del +1 more)
Microsatellite
(inframe_deletion)
Osteogenesis imperfecta type 6
GLikely pathogenic
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