"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "COL1A1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585355	NM_000088.4(COL1A1):c.4323T>A (p.Asp1441Glu)	COL1A1 (D1441E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 425606	NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)	COL1A1 (G719S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2664878	NM_000088.4(COL1A1):c.1516-5A>G	COL1A1	Single nucleotide variant (intron variant)	Osteoporosis	GUncertain significance
Select item 1368199	NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala)	COL1A1 (G413A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GConflicting classifications of pathogenicity
Select item 1452080	NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser)	COL1A1, LOC126862586 (G287S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic/Likely pathogenic
Select item 526854	NM_000088.4(COL1A1):c.599G>T (p.Gly200Val)	COL1A1 (G200V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1339103	NM_000088.4(COL1A1):c.590G>T (p.Gly197Val)	COL1A1 (G197V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic/Likely pathogenic

ClinVar