C3151080[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17038	NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)	C8B (R428* +2 more)	Single nucleotide variant (nonsense)	Complement component 6 deficiency +2 more	GPathogenic
Select item 1511289	NM_000066.4(C8B):c.659C>A (p.Thr220Lys)	C8B (T220K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1325387	NM_000066.4(C8B):c.348C>A (p.Cys116Ter)	C8B (C116* +2 more)	Single nucleotide variant (nonsense)	Type II complement component 8 deficiency	GPathogenic

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