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

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712461	NM_000186.4(CFH):c.47del (p.Cys16fs)	CFH (C16fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 16550	NM_000186.4(CFH):c.184G>A (p.Val62Ile)	CFH (V62I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +6 more	GBenign
Select item 1168607	NM_000186.4(CFH):c.245-11_245-9dup	CFH	Duplication (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1166414	NM_000186.4(CFH):c.245-10_245-9dup	CFH	Duplication (intron variant)	Factor H deficiency +6 more	GBenign
Select item 294480	NM_000186.4(CFH):c.245-7G>A	CFH	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign/Likely benign
Select item 636726	NM_000186.4(CFH):c.524G>C (p.Arg175Pro)	CFH (R175P)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 294487	NM_000186.4(CFH):c.770G>A (p.Arg257His)	CFH (R257H)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GConflicting classifications of pathogenicity
Select item 1712406	NM_000186.4(CFH):c.773C>T (p.Pro258Leu)	CFH (P258L)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GUncertain significance
Select item 294488	NM_000186.4(CFH):c.921A>C (p.Ala307=)	CFH	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 294490	NM_000186.4(CFH):c.1204C>T (p.His402Tyr)	CFH (H402Y)	Single nucleotide variant (missense variant)	Factor H deficiency +6 more	GConflicting classifications of pathogenicity
Select item 1712366	NM_000186.4(CFH):c.1337-8595C>T	CFH	Single nucleotide variant (intron variant)	Kidney disorder	GBenign
Select item 294491	NM_000186.4(CFH):c.1419G>A (p.Ala473=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
Select item 157562	NM_000186.4(CFH):c.1507C>G (p.Pro503Ala)	CFH (P503A)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +5 more	GUncertain significance
Select item 1712448	NM_000186.4(CFH):c.1617T>C (p.Gly539=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +5 more	GLikely benign
Select item 294494	NM_000186.4(CFH):c.1652T>C (p.Ile551Thr)	CFH (I551T)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 294497	NM_000186.4(CFH):c.1949G>T (p.Gly650Val)	CFH (G650V)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +5 more	GConflicting classifications of pathogenicity
Select item 294498	NM_000186.4(CFH):c.2016A>G (p.Gln672=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
Select item 1712460	NM_000186.4(CFH):c.2089C>T (p.Leu697Phe)	CFH (L697F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 294501	NM_000186.4(CFH):c.2236+8T>A	CFH	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign/Likely benign
Select item 294504	NM_000186.4(CFH):c.2634C>T (p.His878=)	CFH	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +7 more	GBenign/Likely benign
Select item 294507	NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)	CFH (S890I)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
Select item 1362138	NM_000186.4(CFH):c.2675C>T (p.Ala892Val)	CFH (A892V)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 1668120	NM_000186.4(CFH):c.2783-3dup	CFH	Duplication (intron variant)	Atypical hemolytic-uremic syndrome +6 more	GBenign/Likely benign
Select item 294509	NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)	CFH (E936D)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
Select item 294510	NM_000186.4(CFH):c.2850G>T (p.Gln950His)	CFH (Q950H)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GConflicting classifications of pathogenicity
Select item 294511	NM_000186.4(CFH):c.2867C>T (p.Thr956Met)	CFH (T956M)	Single nucleotide variant (missense variant)	Basal laminar drusen +7 more	GConflicting classifications of pathogenicity
Select item 1563833	NM_000186.4(CFH):c.2946A>G (p.Pro982=)	CFH	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +5 more	GBenign/Likely benign
Select item 294513	NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)	CFH (G1002R)	Single nucleotide variant (missense variant)	Basal laminar drusen +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)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
Select item 1588570	NM_000186.4(CFH):c.3045T>C (p.Thr1015=)	CFH	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 294517	NM_000186.4(CFH):c.3133+8G>T	CFH	Single nucleotide variant (intron variant)	Factor H deficiency +6 more	GBenign/Likely benign
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)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +6 more	GBenign
Select item 294520	NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)	CFH (N1050Y)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +7 more	GBenign/Likely benign
Select item 1284610	NM_000186.4(CFH):c.3150T>C (p.Asn1050=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +6 more	GBenign/Likely benign
Select item 289336	NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)	CFH (I1059T)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
Select item 1163683	NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)	CFH (Q1076E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +5 more	GUncertain significance
Select item 1712373	NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)	CFH (H1165Y)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 16558	NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	CFH (R1210C)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1712431	NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)	CFH (R1215L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic

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Items: 40