"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16077	NM_001710.6(CFB):c.26T>A (p.Leu9His)	C2, CFB (L9H)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 16076	NM_001710.5(CFB):c.94C>T (p.Arg32Trp)	C2, CFB (R32W)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 16075	NM_001710.5(CFB):c.95G>A (p.Arg32Gln)	C2, CFB (R32Q)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 356268	NM_001710.6(CFB):c.221G>A (p.Arg74His)	C2, CFB (R74H)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 356271	NM_001710.6(CFB):c.405C>T (p.Tyr135=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +4 more	GBenign/Likely benign
Select item 356273	NM_001710.6(CFB):c.504G>A (p.Pro168=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +4 more	GBenign/Likely benign
Select item 1482107	NM_001710.6(CFB):c.507C>T (p.Gly169=)	CFB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356274	NM_001710.6(CFB):c.600C>T (p.Ser200=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +2 more	GBenign/Likely benign
Select item 356277	NM_001710.6(CFB):c.672C>T (p.Tyr224=)	C2, CFB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 356280	NM_001710.6(CFB):c.754G>A (p.Gly252Ser)	C2, CFB (G252S)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +4 more	GBenign/Likely benign
Select item 356281	NM_001710.6(CFB):c.858C>T (p.Phe286=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +5 more	GBenign/Likely benign
Select item 1712450	NM_001710.6(CFB):c.978A>G (p.Glu326=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1336024	NM_001710.6(CFB):c.978A>C (p.Glu326Asp)	CFB (E326D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1712451	NM_001710.6(CFB):c.981A>T (p.Ala327=)	CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 356284	NM_001710.6(CFB):c.1137C>T (p.Arg379=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +8 more	GBenign/Likely benign
Select item 356285	NM_001710.6(CFB):c.1143C>T (p.Arg381=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +4 more	GBenign/Likely benign
Select item 356287	NM_001710.6(CFB):c.1365C>T (p.Val455=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +4 more	GBenign/Likely benign
Select item 829990	NM_001710.6(CFB):c.1374G>A (p.Met458Ile)	CFB (M458I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 225313	NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)	C2, CFB (K533R)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +7 more	GBenign/Likely benign
Select item 356292	NM_001710.6(CFB):c.1693A>G (p.Lys565Glu)	CFB (K565E)	Single nucleotide variant (missense variant)	Macular degeneration +3 more	GBenign
Select item 225314	NM_001710.6(CFB):c.1697A>C (p.Glu566Ala)	CFB (E566A)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +5 more	GBenign/Likely benign

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Items: 21