C4551623[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281902	NM_000089.4(COL1A2):c.594+5A>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 1068896	NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)	COL1A2 (G919S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 949148	NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His)	COL1A1 (R1356H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 567054	NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser)	COL1A1 (P949S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1326536	NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys)	COL1A1, LOC126862586 (E288K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 972993	NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)	COL1A1 (P129S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar