"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CFH"[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682680	NM_000186.4(CFH):c.-19C>T	CFH	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 875857	NM_000186.4(CFH):c.7C>G (p.Leu3Val)	CFH (L3V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1162883	NM_000186.4(CFH):c.122C>T (p.Thr41Ile)	CFH (T41I)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 2683636	NM_000186.4(CFH):c.158G>A (p.Arg53His)	CFH (R53H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2682681	NM_000186.4(CFH):c.163G>A (p.Gly55Arg)	CFH (G55R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 874052	NM_000186.4(CFH):c.172T>G (p.Ser58Ala)	CFH (S58A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1162884	NM_000186.4(CFH):c.349G>A (p.Gly117Arg)	CFH (G117R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162885	NM_000186.4(CFH):c.446T>C (p.Val149Ala)	CFH (V149A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380251	NM_000186.4(CFH):c.464G>A (p.Gly155Glu)	CFH (G155E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403152	NM_000186.4(CFH):c.476G>A (p.Ser159Asn)	CFH (S159N)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1032243	NM_000186.4(CFH):c.497G>A (p.Arg166Gln)	CFH (R166Q)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1162886	NM_000186.4(CFH):c.694C>T (p.Arg232Ter)	CFH (R232*)	Single nucleotide variant (nonsense)	Factor H deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1343348	NM_000186.4(CFH):c.740del (p.Gly247fs)	CFH (G247fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1162887	NM_000186.4(CFH):c.764G>A (p.Gly255Glu)	CFH (G255E)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1162888	NM_000186.4(CFH):c.769C>T (p.Arg257Cys)	CFH (R257C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2202899	NM_000186.4(CFH):c.1022G>A (p.Arg341His)	CFH (R341H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162889	NM_000186.4(CFH):c.1111C>A (p.His371Asn)	CFH (H371N)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 3380258	NM_000186.4(CFH):c.1231T>A (p.Ser411Thr)	CFH (S411T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295182	NM_000186.4(CFH):c.1397C>T (p.Thr466Ile)	CFH (T466I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 875087	NM_000186.4(CFH):c.1418C>T (p.Ala473Val)	CFH (A473V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 294493	NM_000186.4(CFH):c.1548T>A (p.Asn516Lys)	CFH (N516K)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +4 more	GConflicting classifications of pathogenicity
Select item 1693689	NM_000186.4(CFH):c.1619A>G (p.Tyr540Cys)	CFH (Y540C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693694	NM_000186.4(CFH):c.1655T>C (p.Val552Ala)	CFH (V552A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381091	NM_000186.4(CFH):c.1673G>A (p.Trp558Ter)	CFH (W558*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3236130	NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)	CFH (C564R)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 2682682	NM_000186.4(CFH):c.1705T>C (p.Cys569Arg)	CFH (C569R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163676	NM_000186.4(CFH):c.1864A>G (p.Ile622Val)	CFH (I622V)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 1450348	NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)	CFH (E625*)	Single nucleotide variant (nonsense)	Factor H deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1399205	NM_000186.4(CFH):c.1922T>C (p.Val641Ala)	CFH (V641A)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1163677	NM_000186.4(CFH):c.1927G>T (p.Glu643Ter)	CFH (E643*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 2682683	NM_000186.4(CFH):c.2021_2029del (p.Val674_Gly676del)	CFH	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1163678	NM_000186.4(CFH):c.2057-1G>A	CFH	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1284671	NM_000186.4(CFH):c.2077G>A (p.Asp693Asn)	CFH (D693N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1163679	NM_000186.4(CFH):c.2179G>A (p.Gly727Arg)	CFH (G727R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682684	NM_000186.4(CFH):c.2204A>G (p.His735Arg)	CFH (H735R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682685	NM_000186.4(CFH):c.2236G>A (p.Ala746Thr)	CFH (A746T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682686	NM_000186.4(CFH):c.2260A>G (p.Lys754Glu)	CFH (K754E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397646	NM_000186.4(CFH):c.2295A>T (p.Leu765Phe)	CFH (L765F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1693705	NM_000186.4(CFH):c.2381A>T (p.Asn794Ile)	CFH (N794I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 875193	NM_000186.4(CFH):c.2424A>G (p.Ile808Met)	CFH (I808M)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1365901	NM_000186.4(CFH):c.2456A>G (p.Asn819Ser)	CFH (N819S)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 3380283	NM_000186.4(CFH):c.2516G>A (p.Cys839Tyr)	CFH (C839Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724330	NM_000186.4(CFH):c.2651C>A (p.Ser884Tyr)	CFH (S884Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2682688	NM_000186.4(CFH):c.2681G>A (p.Gly894Glu)	CFH (G894E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380289	NM_000186.4(CFH):c.2720T>A (p.Ile907Lys)	CFH (I907K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163680	NM_000186.4(CFH):c.2753G>A (p.Gly918Glu)	CFH (G918E)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 1555542	NM_000186.4(CFH):c.2783-8T>A	CFH	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1163681	NM_000186.4(CFH):c.2783G>T (p.Gly928Val)	CFH (G928V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381093	NM_000186.4(CFH):c.2871C>A (p.Tyr957Ter)	CFH (Y957*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2147511	NM_000186.4(CFH):c.2879T>C (p.Phe960Ser)	CFH (F960S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682689	NM_000186.4(CFH):c.2896G>C (p.Asp966His)	CFH (D966H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2355797	NM_000186.4(CFH):c.2936C>G (p.Ser979Cys)	CFH (S979C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163682	NM_000186.4(CFH):c.2944C>A (p.Pro982Thr)	CFH (P982T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598661	NM_000186.4(CFH):c.3133+4C>G	CFH	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1693711	NM_000186.4(CFH):c.3160G>A (p.Val1054Ile)	CFH (V1054I)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
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 16561	NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser)	CFH (R1078S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380308	NM_000186.4(CFH):c.3310G>C (p.Asp1104His)	CFH (D1104H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380305	NM_000186.4(CFH):c.3310G>A (p.Asp1104Asn)	CFH (D1104N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343354	NM_000186.4(CFH):c.3322A>T (p.Lys1108Ter)	CFH (K1108*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2682690	NM_000186.4(CFH):c.3326G>C (p.Cys1109Ser)	CFH (C1109S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163684	NM_000186.4(CFH):c.3356A>G (p.Asp1119Gly)	CFH (D1119G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1343356	NM_000186.4(CFH):c.3414_3421del (p.Gln1139fs)	CFH (Q1139fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1343362	NM_000186.4(CFH):c.3493+1G>A	CFH	Single nucleotide variant (splice donor variant)	Atypical hemolytic-uremic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2682691	NM_000186.4(CFH):c.3506T>C (p.Ile1169Thr)	CFH (I1169T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693716	NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)	CFH (L1189F)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 16545	NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)	CFH (S1191L)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 636910	NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp)	CFH (G1194D)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GUncertain significance
Select item 21090	NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)	CFH (V1197A)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1163685	NM_000186.4(CFH):c.3593A>G (p.Glu1198Gly)	CFH (E1198G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1163686	NM_000186.4(CFH):c.3607C>T (p.Arg1203Trp)	CFH (R1203W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163687	NM_000186.4(CFH):c.3610G>T (p.Gly1204Ter)	CFH (G1204*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2683637	NM_000186.4(CFH):c.3646ACA[1] (p.Thr1217del)	CFH (T1217del)	Microsatellite (inframe deletion)	not provided	GLikely pathogenic
Select item 2682692	NM_000186.4(CFH):c.3659A>G (p.Asp1220Gly)	CFH (D1220G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Items: 78