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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862586, COL1A1
(G284A)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1, LOC126862586
(G281S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
COL1A1, LOC126862586
(G257R)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta
+10 more
GPathogenic
COL1A1, LOC126862586
(G251D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
GPathogenic
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