C0023931[trait identifier] AND "Molecular Genetics laboratory, Necker - ClinVar - NCBI

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Items: 16

	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 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 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 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 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 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 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 1803790	NM_000088.4(COL1A1):c.141C>G (p.Tyr47Ter)	COL1A1 (Y47*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GLikely pathogenic