C0268362[trait identifier] AND "Molecular Genetics laboratory, Necker - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804634	NM_000089.4(COL1A2):c.2010_2013delinsG (p.Arg671del)	COL1A2 (R671del)	Indel (inframe_deletion)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1468991	NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)	COL1A2 (G772R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 1806464	NM_000089.4(COL1A2):c.2854G>A (p.Gly952Ser)	COL1A2 (G952S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1806460	NM_000088.4(COL1A1):c.4352_4356del (p.Asp1451fs)	COL1A1 (D1451fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1806459	NM_000088.4(COL1A1):c.3880dup (p.Glu1294fs)	COL1A1 (E1294fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1806458	NM_000088.4(COL1A1):c.3119G>C (p.Gly1040Ala)	COL1A1 (G1040A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic

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