"Clinical Genetics and Genomics, Karolinska University Hospital"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988496	NM_000089.4(COL1A2):c.1685G>A (p.Gly562Asp)	COL1A2 (G562D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988398	NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val)	COL1A2 (G940V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 216908	NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	COL1A2 (G1012S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +9 more	GPathogenic/Likely pathogenic
Select item 988368	NM_000089.4(COL1A2):c.3287G>C (p.Gly1096Ala)	COL1A2 (G1096A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3363158	NM_000089.4(COL1A2):c.2187+1G>C	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 3363155	NM_000089.4(COL1A2):c.2234G>A (p.Gly745Glu)	COL1A2 (G745E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic

ClinVar