C0268358[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456802	NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	COL1A2 (G358S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +9 more	GPathogenic
Select item 1320217	NM_000089.4(COL1A2):c.1163G>T (p.Gly388Val)	COL1A2 (G388V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 526895	NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser)	COL1A2 (G460S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 425649	NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)	COL1A2 (G601S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +5 more	GPathogenic
Select item 447141	NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	COL1A1 (G788S)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +8 more	GPathogenic
Select item 1333627	NM_000088.4(COL1A1):c.1292G>T (p.Gly431Val)	COL1A1 (G431V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 425597	NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	COL1A1 (R415*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 17312	NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)	COL1A1 (G332R)	Single nucleotide variant (missense variant)	COL1A1-related condition +9 more	GPathogenic

ClinVar