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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1587263	NM_001173467.3(SP7):c.1184G>A (p.Arg395His)	SP7 (R377H +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 1268320	NM_001173467.3(SP7):c.993C>T (p.Cys331=)	SP7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 196318	NM_001173467.3(SP7):c.864G>A (p.Leu288=)	SP7	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +3 more	GBenign/Likely benign
Select item 1702065	NM_001173467.3(SP7):c.855G>A (p.Ala285=)	SP7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1495322	NM_001173467.3(SP7):c.839G>T (p.Arg280Leu)	SP7 (R280L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1302961	NM_001173467.3(SP7):c.799C>T (p.Arg267Cys)	SP7 (R267C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1702063	NM_001173467.3(SP7):c.675C>T (p.Pro225=)	SP7	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702062	NM_001173467.3(SP7):c.500G>A (p.Trp167Ter)	SP7 (W149* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta	GUncertain significance
Select item 1702061	NM_001173467.3(SP7):c.184G>T (p.Asp62Tyr)	SP7 (D44Y +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance