"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "COL1A2"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627392	NM_000089.4(COL1A2):c.179G>A (p.Gly60Asp)	COL1A2 (G60D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, cardiac valvular type	GUncertain significance
Select item 456803	NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)	COL1A2 (V416I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GConflicting classifications of pathogenicity
Select item 521008	NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	COL1A2 (G526R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GPathogenic/Likely pathogenic
Select item 802335	NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser)	COL1A2 (G679S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +1 more	GLikely pathogenic
Select item 1314448	NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn)	COL1A2 (D1007N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GUncertain significance
Select item 585502	NM_000089.4(COL1A2):c.3304G>A (p.Gly1102Ser)	COL1A2 (G1102S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +1 more	GPathogenic

ClinVar