"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1702047	NM_005032.7(PLS3):c.89G>A (p.Gly30Glu)	PLS3 (G30E +1 more)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 1702045	NM_005032.7(PLS3):c.188A>G (p.Asp63Gly)	PLS3 (D18G +2 more)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta	GUncertain significance
Select item 88702	NM_005032.7(PLS3):c.321T>A (p.Gly107=)	PLS3	Single nucleotide variant (synonymous variant)	Bone mineral density quantitative trait locus 18 +3 more	GBenign
Select item 1300398	NM_005032.7(PLS3):c.749-8del	PLS3	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1702046	NM_005032.7(PLS3):c.892G>A (p.Asp298Asn)	PLS3 (D253N +3 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1206375	NM_005032.7(PLS3):c.925A>G (p.Ile309Val)	PLS3 (I264V +3 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GBenign/Likely benign
Select item 1702044	NM_005032.7(PLS3):c.1192C>T (p.Arg398Cys)	PLS3 (R353C +3 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance

ClinVar