"Blueprint Genetics"[submitter] AND "C7"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12105	NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	C7 (R521S)	Single nucleotide variant (missense variant)	Complement component 7 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 75949	NM_000587.4(C7):c.1636G>A (p.Glu546Lys)	C7 (E546K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 636459	NM_000587.4(C7):c.2350+2T>C	C7	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity

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