ClinVar for OMIM (Select 134370) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812377	NC_000006.12:g.99593098A>C	LOC111365204, PRDM13	Single nucleotide variant	North Carolina macular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 92162	NM_000064.4(C3):c.463A>C (p.Lys155Gln)	C3 (K155Q)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 37236	NM_030787.4(CFHR5):c.59-1806_430+3225dup	CFHR5	Duplication (splice acceptor variant +1 more)	C3 glomerulonephritis	GPathogenic
Select item 17062	NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)	C3 (D1115N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 17061	NM_000064.4(C3):c.3281C>T (p.Ala1094Val)	C3 (A1094V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly	Grisk factor
Select item 17060	NM_000064.4(C3):c.1775G>A (p.Arg592Gln)	C3 (R592Q)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 17048	NM_172351.3(CD46):c.175C>T (p.Arg59Ter)	CD46 (R59*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 16080	NM_001710.6(CFB):c.967A>G (p.Lys323Glu)	CFB (K323E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly	Grisk factor

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