"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282016	NM_000088.4(COL1A1):c.3567del (p.Gly1190fs)	COL1A1 (G1190fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 804337	NM_000088.4(COL1A1):c.3494del (p.Pro1165fs)	COL1A1 (P1165fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 3256564	NM_000088.4(COL1A1):c.2752C>T (p.Arg918Cys)	COL1A1 (R918C)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis	GPathogenic
Select item 637038	NM_000088.4(COL1A1):c.2523del (p.Gly842fs)	COL1A1 (G842fs)	Deletion (frameshift variant)	COL1A1-related disorder +2 more	GPathogenic
Select item 1299522	NM_000088.4(COL1A1):c.1920del (p.Gly641fs)	COL1A1 (G641fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1431093	NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	COL1A1 (P556fs)	Deletion (frameshift variant)	Osteogenesis imperfecta, perinatal lethal +7 more	GPathogenic
Select item 656721	NM_000088.4(COL1A1):c.1614+2T>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 372754	NM_000088.4(COL1A1):c.1354-12G>A	COL1A1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 425593	NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)	COL1A1 (R361*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic

ClinVar