"PreventionGenetics, part of Exact Sciences"[submitter] AND "MBTPS2"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 743385	NM_015884.4(MBTPS2):c.30G>C (p.Val10=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1575398	NM_015884.4(MBTPS2):c.119A>G (p.Asn40Ser)	MBTPS2 (N40S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 736432	NM_015884.4(MBTPS2):c.218A>G (p.Tyr73Cys)	MBTPS2 (Y73C)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2631574	NM_015884.4(MBTPS2):c.304T>G (p.Leu102Val)	MBTPS2 (L102V)	Single nucleotide variant (missense variant)	MBTPS2-related disorder	GUncertain significance
Select item 2140071	NM_015884.4(MBTPS2):c.384TTC[1] (p.Ser136del)	MBTPS2 (S136del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2991442	NM_015884.4(MBTPS2):c.438+10G>A	MBTPS2	Single nucleotide variant (intron variant)	MBTPS2-related disorder +1 more	GBenign/Likely benign
Select item 2175025	NM_015884.4(MBTPS2):c.843T>C (p.His281=)	MBTPS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1564519	NM_015884.4(MBTPS2):c.1237C>T (p.His413Tyr)	MBTPS2 (H413Y)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +3 more	GBenign/Likely benign

ClinVar