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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1806454	NM_000088.4(COL1A1):c.4183G>T (p.Glu1395Ter)	COL1A1 (E1395*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1806453	NM_000088.4(COL1A1):c.3994del (p.Asp1332fs)	COL1A1 (D1332fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	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 1806457	NM_000088.4(COL1A1):c.3664A>G (p.Asn1222Asp)	COL1A1 (N1222D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1686705	NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter)	COL1A1 (Q1090*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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
Select item 1806452	NM_000088.4(COL1A1):c.2938-1G>A	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1806451	NM_000088.4(COL1A1):c.2783del (p.Pro928fs)	COL1A1 (P928fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 2429384	NM_000088.4(COL1A1):c.2559+5G>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1806450	NM_000088.4(COL1A1):c.2483_2485delinsG (p.Glu828fs)	COL1A1 (E828fs)	Indel (frameshift variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1803788	NM_000088.4(COL1A1):c.806G>C (p.Gly269Ala)	LOC126862586, COL1A1 (G269A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1803789	NM_000088.4(COL1A1):c.316dup (p.Glu106fs)	COL1A1 (E106fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 35919	NM_000088.4(COL1A1):c.299_300delAG	COL1A1	Microsatellite (splice acceptor variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1803790	NM_000088.4(COL1A1):c.141C>G (p.Tyr47Ter)	COL1A1 (Y47*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GLikely pathogenic