C0268358[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35957	NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	COL1A2 (G280S)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +7 more	GPathogenic
Select item 425663	NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)	COL1A2 (G292S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 521008	NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	COL1A2 (G526R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +5 more	GPathogenic/Likely pathogenic
Select item 1710022	NM_000088.4(COL1A1):c.3434G>T (p.Gly1145Val)	COL1A1 (G1145V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 161457	NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)	COL1A1 (R1093C)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis +9 more	GUncertain significance
Select item 1211288	NM_000088.4(COL1A1):c.3261+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar