"Molecular Genetics laboratory, Necker Hospital"[submitter] AND "COL1A - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806455	NM_000089.4(COL1A2):c.842_859dup (p.Gly286_Leu287insProArgGlyGluValGly)	COL1A2	Duplication (inframe_insertion)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1806461	NM_000089.4(COL1A2):c.1612G>A (p.Gly538Ser)	COL1A2 (G538S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1806462	NM_000089.4(COL1A2):c.1657G>T (p.Gly553Cys)	COL1A2 (G553C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
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 197451	NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val)	COL1A2 (G898V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1804638	NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)	COL1A2 (G913D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 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 1806465	NM_000089.4(COL1A2):c.3142G>A (p.Gly1048Ser)	COL1A2 (G1048S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1806466	NM_000089.4(COL1A2):c.3159G>A (p.Arg1053=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic