"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CFB"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356258	NM_000063.6(C2):c.2046A>G (p.Ala682=)	C2, CFB	Single nucleotide variant (synonymous variant)	Age related macular degeneration 14 +4 more	GBenign/Likely benign
Select item 356267	NM_001710.6(CFB):c.-3G>A	CFB	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +3 more	GUncertain significance
Select item 16077	NM_001710.6(CFB):c.26T>A (p.Leu9His)	C2, CFB (L9H)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +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)	Atypical hemolytic-uremic syndrome +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)	Atypical hemolytic-uremic syndrome +7 more	GBenign/Likely benign
Select item 356284	NM_001710.6(CFB):c.1137C>T (p.Arg379=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +8 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 1575611	NM_001710.6(CFB):c.1778+8C>T	CFB	Single nucleotide variant (intron variant)	Age related macular degeneration 14 +3 more	GLikely benign
Select item 356295	NM_001710.6(CFB):c.2100C>T (p.Gly700=)	CFB	Single nucleotide variant (synonymous variant)	Age related macular degeneration 14 +4 more	GBenign/Likely benign