"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930893	NM_000089.4(COL1A2):c.71-6C>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 978557	NM_000089.4(COL1A2):c.280-7T>C	COL1A2	Single nucleotide variant (intron variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 931954	NM_000089.4(COL1A2):c.551G>A (p.Gly184Asp)	COL1A2 (G184D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 456848	NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	COL1A2 (G328S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +8 more	GPathogenic
Select item 931916	NM_000089.4(COL1A2):c.2306G>T (p.Gly769Val)	COL1A2 (G769V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 374196	NM_000089.4(COL1A2):c.2549G>A (p.Gly850Glu)	COL1A2 (G850E)	Single nucleotide variant (missense variant)	Multiple prenatal fractures +1 more	GPathogenic
Select item 930288	NM_000089.4(COL1A2):c.2629G>A (p.Gly877Ser)	COL1A2 (G877S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 930534	NM_000089.4(COL1A2):c.3854A>G (p.Asn1285Ser)	COL1A2 (N1285S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance