"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SP7"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1506437	NM_001173467.3(SP7):c.144C>G (p.Tyr48Ter)	SP7 (Y48* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1361090	NM_001173467.3(SP7):c.135_136del (p.Lys46fs)	SP7 (K46fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta type 12 +1 more	GUncertain significance
Select item 1181435	NM_001173467.3(SP7):c.-47-15del	SP7	Deletion (5 prime UTR variant +1 more)	Osteogenesis imperfecta type 12 +1 more	GLikely benign

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