"OMIM"[submitter] AND "C9"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 29659	NM_001737.5(C9):c.1583G>A (p.Cys528Tyr)	C9 (C528Y)	Single nucleotide variant (missense variant)	Complement component 9 deficiency	GPathogenic
Select item 17043	NM_001737.5(C9):c.1280C>G (p.Ser427Ter)	C9 (S427*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 92120	NM_001737.5(C9):c.499C>T (p.Pro167Ser)	C9	Single nucleotide variant	not provided	GLikely benign
Select item 1029525	NM_001737.5(C9):c.460C>T (p.Arg154Ter)	C9 (R154*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 17042	NM_001737.5(C9):c.355T>G (p.Cys119Gly)	C9 (C119G)	Single nucleotide variant (missense variant)	Age related macular degeneration 15 +2 more	GConflicting classifications of pathogenicity
Select item 17040	NM_001737.5(C9):c.346C>T (p.Arg116Ter)	C9 (R116*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 17041	NM_001737.5(C9):c.162C>A (p.Cys54Ter)	C9 (C54*)	Single nucleotide variant (nonsense)	Complement component 9 deficiency +2 more	GPathogenic/Likely pathogenic

ClinVar