"Fulgent Genetics, Fulgent Genetics"[submitter] AND "C8B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1507317	NM_000066.4(C8B):c.1606G>A (p.Val536Ile)	C8B (V484I +2 more)	Single nucleotide variant (missense variant)	Type II complement component 8 deficiency +1 more	GUncertain significance
Select item 1405326	NM_000066.4(C8B):c.1438G>A (p.Ala480Thr)	C8B (A428T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1167718	NM_000066.4(C8B):c.1355G>C (p.Trp452Ser)	C8B (W390S +2 more)	Single nucleotide variant (missense variant)	Type II complement component 8 deficiency +1 more	GBenign/Likely benign
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 1511217	NM_000066.4(C8B):c.725G>A (p.Arg242His)	C8B (R242H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 35594	NM_000066.4(C8B):c.271C>T (p.Gln91Ter)	C8B (Q91* +2 more)	Single nucleotide variant (nonsense)	Type II complement component 8 deficiency +3 more	GPathogenic/Likely pathogenic

ClinVar