"Revvity Omics, Revvity"[submitter] AND "CFH"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1011109	NM_000186.4(CFH):c.647T>C (p.Ile216Thr)	CFH (I216T)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 1322068	NM_000186.4(CFH):c.729C>G (p.Tyr243Ter)	CFH (Y243*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1324063	NM_000186.4(CFH):c.1119_1120del (p.His373fs)	CFH (H373fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1322067	NM_000186.4(CFH):c.1307G>A (p.Trp436Ter)	CFH (W436*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2085426	NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)	CFH (P599T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1962482	NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)	CFH (E677G)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1416545	NM_000186.4(CFH):c.2171C>A (p.Thr724Lys)	CFH (T724K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 829889	NM_000186.4(CFH):c.2900G>A (p.Gly967Glu)	CFH (G967E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1030653	NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr)	CFH (A1057T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 16558	NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	CFH (R1210C)	Single nucleotide variant (missense variant)	Basal laminar drusen +6 more	GConflicting classifications of pathogenicity