C0268358[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683900	NM_000089.4(COL1A2):c.614G>A (p.Gly205Asp)	COL1A2 (G205D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 427739	NM_000089.4(COL1A2):c.2673G>A (p.Val891=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 812584	NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val)	COL1A1 (G641V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1678538	NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg)	COL1A1 (G467R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 2501692	NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val)	COL1A1 (G335V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic

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