"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1166414	NM_000186.4(CFH):c.245-10_245-9dup	CFH	Duplication (intron variant)	Atypical hemolytic-uremic syndrome +6 more	GBenign
Select item 710193	NM_000186.4(CFH):c.245-8C>T	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +4 more	GLikely benign
Select item 294480	NM_000186.4(CFH):c.245-7G>A	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 294482	NM_000186.4(CFH):c.285T>C (p.Thr95=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +5 more	GConflicting classifications of pathogenicity
Select item 294484	NM_000186.4(CFH):c.428-14T>C	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +5 more	GBenign/Likely benign
Select item 294486	NM_000186.4(CFH):c.477T>C (p.Ser159=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +5 more	GBenign
Select item 1284542	NM_000186.4(CFH):c.1159+19T>G	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +4 more	GBenign
Select item 722920	NM_000186.4(CFH):c.1707C>T (p.Cys569=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +4 more	GBenign/Likely benign
Select item 294498	NM_000186.4(CFH):c.2016A>G (p.Gln672=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 294504	NM_000186.4(CFH):c.2634C>T (p.His878=)	CFH	Single nucleotide variant (synonymous variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +7 more	GBenign/Likely benign
Select item 294507	NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)	CFH (S890I)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 1284591	NM_000186.4(CFH):c.2783-3del	CFH	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 294509	NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)	CFH (E936D)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 294510	NM_000186.4(CFH):c.2850G>T (p.Gln950His)	CFH (Q950H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 294514	NM_000186.4(CFH):c.3019G>T (p.Val1007Leu)	CFH (V1007L)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 875337	NM_000186.4(CFH):c.3134-5T>C	CFH	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +5 more	GConflicting classifications of pathogenicity
Select item 294519	NM_000186.4(CFH):c.3138C>T (p.Thr1046=)	CFH	Single nucleotide variant (synonymous variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GBenign
Select item 294520	NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)	CFH (N1050Y)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 1284610	NM_000186.4(CFH):c.3150T>C (p.Asn1050=)	CFH	Single nucleotide variant (synonymous variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 294521	NM_000186.4(CFH):c.3172T>C (p.Tyr1058His)	CFH (Y1058H)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GLikely benign
Select item 294522	NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)	CFH (V1060L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 294523	NM_000186.4(CFH):c.3207T>C (p.Ser1069=)	CFH	Single nucleotide variant (synonymous variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GBenign/Likely benign

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Items: 22