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

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 713953	NM_001235.5(SERPINH1):c.188C>T (p.Ala63Val)	SERPINH1 (A63V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1702059	NM_001235.5(SERPINH1):c.370C>T (p.Arg124Cys)	SERPINH1 (R124C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 306101	NM_001235.5(SERPINH1):c.481A>C (p.Ile161Leu)	SERPINH1 (I161L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 196324	NM_001235.5(SERPINH1):c.721+9T>C	SERPINH1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 197191	NM_001235.5(SERPINH1):c.744C>T (p.Asp248=)	SERPINH1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 1702060	NM_001235.5(SERPINH1):c.843T>C (p.Leu281=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306110	NM_001235.5(SERPINH1):c.955-6C>A	SERPINH1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +3 more	GBenign
Select item 306114	NM_001235.5(SERPINH1):c.*4C>G	SERPINH1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance