"OMIM"[submitter] AND "C8B"[gene] - ClinVar

	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 35597	NM_000066.4(C8B):c.1041_1047dup (p.Leu350fs)	C8B (L298fs +2 more)	Duplication (frameshift variant)	Type II complement component 8 deficiency	GPathogenic
Select item 35592	NM_000066.4(C8B):c.820C>T (p.Arg274Ter)	C8B (R274* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 35596	NM_000066.4(C8B):c.605del (p.Pro202fs)	C8B (P140fs +2 more)	Deletion (frameshift variant)	Type II complement component 8 deficiency	GPathogenic
Select item 35593	NM_000066.4(C8B):c.361C>T (p.Arg121Ter)	C8B (R121* +2 more)	Single nucleotide variant (nonsense)	Type II complement component 8 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 35595	NM_000066.4(C8B):c.336del (p.Asn113fs)	C8B (N51fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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