ClinVar for MedGen (Select 339914) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3767361	NM_000186.4(CFH):c.55G>T (p.Glu19Ter)	CFH (E19*)	Single nucleotide variant (nonsense)	Age related macular degeneration 4	GLikely pathogenic
Select item 3575728	NM_000186.4(CFH):c.3617G>A (p.Arg1206His)	CFH (R1206H)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575718	NM_000186.4(CFH):c.3578C>T (p.Thr1193Ile)	CFH (T1193I)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575710	NM_000186.4(CFH):c.3551C>T (p.Thr1184Ile)	CFH (T1184I)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575706	NM_000186.4(CFH):c.3517A>T (p.Ile1173Phe)	CFH (I1173F)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575701	NM_000186.4(CFH):c.3512G>A (p.Arg1171Gln)	CFH (R1171Q)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575686	NM_000186.4(CFH):c.3472T>C (p.Ser1158Pro)	CFH (S1158P)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575676	NM_000186.4(CFH):c.3459A>C (p.Arg1153Ser)	CFH (R1153S)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575670	NM_000186.4(CFH):c.3437G>A (p.Gly1146Asp)	CFH (G1146D)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575662	NM_000186.4(CFH):c.3358A>G (p.Ile1120Val)	CFH (I1120V)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575659	NM_000186.4(CFH):c.3341C>T (p.Pro1114Leu)	CFH (P1114L)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575652	NM_000186.4(CFH):c.3290C>T (p.Thr1097Met)	CFH (T1097M)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575644	NM_000186.4(CFH):c.3285C>A (p.Asn1095Lys)	CFH (N1095K)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575638	NM_000186.4(CFH):c.3271T>C (p.Cys1091Arg)	CFH (C1091R)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575634	NM_000186.4(CFH):c.3238C>G (p.Pro1080Ala)	CFH (P1080A)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575623	NM_000186.4(CFH):c.3215G>C (p.Arg1072Thr)	CFH (R1072T)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575618	NM_000186.4(CFH):c.3209G>C (p.Gly1070Ala)	CFH (G1070A)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575613	NM_000186.4(CFH):c.3181T>C (p.Ser1061Pro)	CFH (S1061P)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575608	NM_000186.4(CFH):c.3168T>G (p.Asn1056Lys)	CFH (N1056K)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575590	NM_000186.4(CFH):c.3137CCT[1] (p.Ser1047del)	CFH (S1047del)	Microsatellite	Factor H deficiency +3 more	GUncertain significance
Select item 3575570	NM_000186.4(CFH):c.3105C>A (p.Ser1035Arg)	CFH (S1035R)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575563	NM_000186.4(CFH):c.3079G>A (p.Ala1027Thr)	CFH (A1027T)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575553	NM_000186.4(CFH):c.3029C>T (p.Ala1010Val)	CFH (A1010V)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575548	NM_000186.4(CFH):c.3022T>C (p.Tyr1008His)	CFH (Y1008H)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575537	NM_000186.4(CFH):c.2912C>T (p.Ala971Val)	CFH (A971V)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575530	NM_000186.4(CFH):c.2905G>T (p.Ala969Ser)	CFH (A969S)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575512	NM_000186.4(CFH):c.2620C>T (p.Pro874Ser)	CFH (P874S)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575500	NM_000186.4(CFH):c.2565T>A (p.Asp855Glu)	CFH (D855E)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575494	NM_000186.4(CFH):c.2519A>G (p.Gln840Arg)	CFH (Q840R)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575489	NM_000186.4(CFH):c.2477C>A (p.Thr826Lys)	CFH (T826K)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575477	NM_000186.4(CFH):c.2405A>G (p.Asn802Ser)	CFH (N802S)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575474	NM_000186.4(CFH):c.2402T>G (p.Val801Gly)	CFH (V801G)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575461	NM_000186.4(CFH):c.2247_2252del (p.Leu750_Lys751del)	CFH	Deletion	Factor H deficiency +3 more	GUncertain significance
Select item 3575457	NM_000186.4(CFH):c.2237-3T>C	CFH	Single nucleotide variant (intron variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575447	NM_000186.4(CFH):c.2200A>T (p.Ile734Phe)	CFH (I734F)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 3575434	NM_000186.4(CFH):c.2167_2178del (p.Phe723_Ile726del)	CFH	Deletion	Factor H deficiency +3 more	GUncertain significance
Select item 3575427	NM_000186.4(CFH):c.2149T>G (p.Phe717Val)	CFH (F717V)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575425	NM_000186.4(CFH):c.2114C>T (p.Ser705Phe)	CFH (S705F)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 3575411	NM_000186.4(CFH):c.2009A>C (p.Lys670Thr)	CFH (K670T)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575367	NM_000186.4(CFH):c.1670G>A (p.Gly557Asp)	CFH (G557D)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575356	NM_000186.4(CFH):c.1615G>A (p.Gly539Ser)	CFH (G539S)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575343	NM_000186.4(CFH):c.1486A>C (p.Lys496Gln)	CFH (K496Q)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575336	NM_000186.4(CFH):c.1464A>G (p.Thr488=)	CFH	Single nucleotide variant (synonymous variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575329	NM_000186.4(CFH):c.1444G>A (p.Val482Ile)	CFH (V482I)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575324	NM_000186.4(CFH):c.1337-2A>G	CFH	Single nucleotide variant (splice acceptor variant)	Factor H deficiency +3 more	GLikely pathogenic
Select item 3575320	NM_000186.4(CFH):c.928A>G (p.Thr310Ala)	CFH (T310A)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575300	NM_000186.4(CFH):c.866A>G (p.Glu289Gly)	CFH (E289G)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575295	NM_000186.4(CFH):c.793A>G (p.Lys265Glu)	CFH (K265E)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575281	NM_000186.4(CFH):c.669G>A (p.Gln223=)	CFH	Single nucleotide variant (synonymous variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575274	NM_000186.4(CFH):c.658C>T (p.Pro220Ser)	CFH (P220S)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575266	NM_000186.4(CFH):c.626C>T (p.Ser209Leu)	CFH (S209L)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 3575263	NM_000186.4(CFH):c.620-2A>G	CFH	Single nucleotide variant (splice acceptor variant)	Factor H deficiency +3 more	GLikely pathogenic
Select item 3575237	NM_000186.4(CFH):c.550A>T (p.Ile184Phe)	CFH (I184F)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575216	NM_000186.4(CFH):c.521T>A (p.Val174Glu)	CFH (V174E)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575195	NM_000186.4(CFH):c.428T>C (p.Val143Ala)	CFH (V143A)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575166	NM_000186.4(CFH):c.336T>A (p.Tyr112Ter)	CFH (Y112*)	Single nucleotide variant (nonsense)	Factor H deficiency +3 more	GLikely pathogenic
Select item 3575161	NM_000186.4(CFH):c.319G>A (p.Gly107Ser)	CFH (G107S)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575148	NM_000186.4(CFH):c.271A>G (p.Thr91Ala)	CFH (T91A)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575132	NM_000186.4(CFH):c.232A>G (p.Arg78Gly)	CFH (R78G)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575090	NM_000186.4(CFH):c.158G>T (p.Arg53Leu)	CFH (R53L)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575077	NM_000186.4(CFH):c.139del (p.Gln47fs)	CFH (Q47fs)	Deletion (frameshift variant)	Factor H deficiency +3 more	GLikely pathogenic
Select item 3575068	NM_000186.4(CFH):c.104G>A (p.Gly35Asp)	CFH (G35D)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575053	NM_000186.4(CFH):c.39G>A (p.Trp13Ter)	CFH (W13*)	Single nucleotide variant (nonsense)	Factor H deficiency +3 more	GLikely pathogenic
Select item 3575048	NM_000186.4(CFH):c.25T>G (p.Cys9Gly)	CFH (C9G)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3575042	NM_000186.4(CFH):c.7C>T (p.Leu3Phe)	CFH (L3F)	Single nucleotide variant (missense variant)	Factor H deficiency +3 more	GUncertain significance
Select item 3491530	NM_000186.4(CFH):c.3149A>T (p.Asn1050Ile)	CFH (N1050I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 3381091	NM_000186.4(CFH):c.1673G>A (p.Trp558Ter)	CFH (W558*)	Single nucleotide variant (nonsense)	Age related macular degeneration 4 +4 more	GLikely pathogenic
Select item 3336549	NM_000186.4(CFH):c.602A>G (p.Glu201Gly)	CFH (E201G)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 3266587	NM_000186.4(CFH):c.1916G>T (p.Gly639Val)	CFH (G639V)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 3237399	NM_000186.4(CFH):c.3152C>T (p.Pro1051Leu)	CFH (P1051L)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 3029256	NM_000186.4(CFH):c.2261A>G (p.Lys754Arg)	CFH (K754R)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 2964972	NM_000186.4(CFH):c.3427C>A (p.Gln1143Lys)	CFH (Q1143K)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 2962885	NM_000186.4(CFH):c.3119G>A (p.Arg1040Lys)	CFH (R1040K)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 2900057	NM_000186.4(CFH):c.558A>T (p.Gly186=)	CFH	Single nucleotide variant (synonymous variant)	Factor H deficiency +4 more	GConflicting classifications of pathogenicity
Select item 2734063	NM_000186.4(CFH):c.1905A>T (p.Glu635Asp)	CFH (E635D)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2734061	NM_000186.4(CFH):c.245A>G (p.Lys82Arg)	CFH (K82R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2682691	NM_000186.4(CFH):c.3506T>C (p.Ile1169Thr)	CFH (I1169T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2682686	NM_000186.4(CFH):c.2260A>G (p.Lys754Glu)	CFH (K754E)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 2682684	NM_000186.4(CFH):c.2204A>G (p.His735Arg)	CFH (H735R)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance
Select item 2639684	NM_000186.4(CFH):c.878A>G (p.Gln293Arg)	CFH (Q293R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2628059	NM_000186.4(CFH):c.752G>A (p.Cys251Tyr)	CFH (C251Y)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +1 more	GUncertain significance
Select item 2621797	NM_000186.4(CFH):c.3220C>T (p.Arg1074Cys)	CFH (R1074C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2595833	NM_000186.4(CFH):c.2563G>A (p.Asp855Asn)	CFH (D855N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2500015	NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)	CFH (C1102W)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +3 more	GUncertain significance
Select item 2397646	NM_000186.4(CFH):c.2295A>T (p.Leu765Phe)	CFH (L765F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 2202901	NM_000186.4(CFH):c.2851T>C (p.Tyr951His)	CFH (Y951H)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GUncertain significance
Select item 2202897	NM_000186.4(CFH):c.272C>G (p.Thr91Ser)	CFH (T91S)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 2091536	NM_000186.4(CFH):c.223A>C (p.Asn75His)	CFH (N75H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2086159	NM_000186.4(CFH):c.3377C>T (p.Ser1126Leu)	CFH (S1126L)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 2085426	NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)	CFH (P599T)	Single nucleotide variant (missense variant)	Factor H deficiency +4 more	GUncertain significance
Select item 2025535	NM_000186.4(CFH):c.2575C>T (p.Gln859Ter)	CFH (Q859*)	Single nucleotide variant (nonsense)	Basal laminar drusen +4 more	GPathogenic/Likely pathogenic
Select item 1986660	NM_000186.4(CFH):c.1735G>A (p.Val579Ile)	CFH (V579I)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1977665	NM_000186.4(CFH):c.218C>T (p.Ala73Val)	CFH (A73V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1967762	NM_000186.4(CFH):c.1986A>G (p.Arg662=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +4 more	GConflicting classifications of pathogenicity
Select item 1962482	NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)	CFH (E677G)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +4 more	GUncertain significance
Select item 1936765	NM_000186.4(CFH):c.2236+1G>C	CFH	Single nucleotide variant (splice donor variant)	CFH-related disorder +5 more	GLikely pathogenic
Select item 1927291	NM_000186.4(CFH):c.1511C>G (p.Thr504Arg)	CFH (T504R)	Single nucleotide variant (missense variant)	Basal laminar drusen +4 more	GUncertain significance
Select item 1924857	NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)	CFH (R1040G)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +5 more	GUncertain significance
Select item 1922351	NM_000186.4(CFH):c.791-20T>G	CFH	Single nucleotide variant (intron variant)	Factor H deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1909237	NM_000186.4(CFH):c.11T>C (p.Leu4Pro)	CFH (L4P)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +4 more	GUncertain significance

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