C0029434[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326102	NM_000089.4(COL1A2):c.2225G>A (p.Gly742Glu)	COL1A2 (G742E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1328474	NM_000089.4(COL1A2):c.3070G>A (p.Gly1024Arg)	COL1A2 (G1024R)	Single nucleotide variant (missense variant)	COL1A2-related condition +1 more	GPathogenic/Likely pathogenic
Select item 444000	NM_000088.4(COL1A1):c.3270del (p.Gly1091fs)	COL1A1 (G1091fs)	Deletion (frameshift variant)	Osteogenesis imperfecta	GPathogenic
Select item 1328469	NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter)	COL1A1 (L1005*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta +1 more	GPathogenic
Select item 1328472	NM_000088.4(COL1A1):c.2668-2A>G	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1328478	NM_000088.4(COL1A1):c.1984-1G>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta	GUncertain significance

ClinVar