ClinVar for Gene (Select 3075) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251593	NM_000186.4(CFH):c.1526G>A (p.Cys509Tyr)	CFH (C509Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	CFHR5, CHI3L1 +185 more	Deletion	not provided	GPathogenic
Select item 3247877	NC_000001.10:g.(?_196714927)_(196715149_?)dup	CFH	Duplication	not provided	GUncertain significance
Select item 3241995	NM_000186.4(CFH):c.3472dup (p.Ser1158fs)	CFH (S1158fs)	Duplication (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3237399	NM_000186.4(CFH):c.3152C>T (p.Pro1051Leu)	CFH (P1051L)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3236385	NM_000186.4(CFH):c.1609del (p.His537fs)	CFH (H537fs)	Deletion (frameshift variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic
Select item 3236204	NM_000186.4(CFH):c.1154G>T (p.Cys385Phe)	CFH (C385F)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	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	GLikely pathogenic
Select item 3236014	NM_000186.4(CFH):c.3104G>A (p.Ser1035Asn)	CFH (S1035N)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3234076	NM_000186.4(CFH):c.245-1G>C	CFH	Single nucleotide variant (splice acceptor variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GPathogenic
Select item 3143797	NM_000186.4(CFH):c.3205T>C (p.Ser1069Pro)	CFH (S1069P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3143795	NM_000186.4(CFH):c.235A>G (p.Lys79Glu)	CFH (K79E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143793	NM_000186.4(CFH):c.1978A>C (p.Asn660His)	CFH (N660H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143792	NM_000186.4(CFH):c.1336+4A>T	CFH	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3067683	NM_000186.4(CFH):c.3640T>A (p.Leu1214Met)	CFH (L1214M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066382	NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)	CFH (C870Y)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3066309	NM_000186.4(CFH):c.1520-2A>G	CFH	Single nucleotide variant (splice acceptor variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GLikely pathogenic
Select item 3066191	NM_000186.4(CFH):c.284C>A (p.Thr95Asn)	CFH (T95N)	Single nucleotide variant (missense variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1	GUncertain significance
Select item 3054004	NC_000001.11:g.196651799A>C	CFH	Single nucleotide variant	CFH-related disorder	GLikely benign
Select item 3029256	NM_000186.4(CFH):c.2261A>G (p.Lys754Arg)	CFH (K754R)	Single nucleotide variant (missense variant)	CFH-related disorder	GUncertain significance
Select item 3026767	NM_000186.4(CFH):c.2091T>A (p.Leu697=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026262	NM_000186.4(CFH):c.561T>C (p.Asp187=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023675	NM_000186.4(CFH):c.2739A>T (p.Thr913=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023307	NM_000186.4(CFH):c.2830C>T (p.His944Tyr)	CFH (H944Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019906	NM_000186.4(CFH):c.1294A>G (p.Met432Val)	CFH (M432V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018312	NM_000186.4(CFH):c.852C>T (p.His284=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017655	NM_000186.4(CFH):c.2607A>G (p.Pro869=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016330	NM_000186.4(CFH):c.58+1G>T	CFH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3014158	NM_000186.4(CFH):c.954G>A (p.Pro318=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008097	NM_000186.4(CFH):c.1275G>T (p.Ala425=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008054	NM_000186.4(CFH):c.591T>C (p.Phe197=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007994	NM_000186.4(CFH):c.2236+10C>A	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006122	NM_000186.4(CFH):c.828C>G (p.Asp276Glu)	CFH (D276E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002354	NM_000186.4(CFH):c.965-12T>C	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001161	NM_000186.4(CFH):c.1286T>C (p.Val429Ala)	CFH (V429A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000926	NM_000186.4(CFH):c.2858AAG[1] (p.Glu954del)	CFH (E954del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2996940	NM_000186.4(CFH):c.1160-2_1180dup	CFH	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 2996739	NM_000186.4(CFH):c.3372G>T (p.Pro1124=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995930	NM_000186.4(CFH):c.2500A>G (p.Lys834Glu)	CFH (K834E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995900	NM_000186.4(CFH):c.2025T>C (p.Asp675=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994802	NM_000186.4(CFH):c.948T>G (p.Pro316=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993192	NM_000186.4(CFH):c.1563T>C (p.Asn521=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991319	NM_000186.4(CFH):c.841A>C (p.Arg281=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989934	NM_000186.4(CFH):c.2783-10T>C	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988506	NM_000186.4(CFH):c.1938A>G (p.Lys646=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987522	NM_000186.4(CFH):c.2166A>G (p.Ser722=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983593	NM_000186.4(CFH):c.1095A>G (p.Ser365=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983513	NM_000186.4(CFH):c.2693G>C (p.Ser898Thr)	CFH (S898T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2983450	NM_000186.4(CFH):c.750A>G (p.Val250=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983085	NM_000186.4(CFH):c.1258T>C (p.Tyr420His)	CFH (Y420H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982193	NM_000186.4(CFH):c.2489G>A (p.Arg830Gln)	CFH (R830Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980696	NM_000186.4(CFH):c.2603T>G (p.Ile868Ser)	CFH (I868S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977567	NM_000186.4(CFH):c.2727A>C (p.Glu909Asp)	CFH (E909D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976213	NM_000186.4(CFH):c.2161G>A (p.Glu721Lys)	CFH (E721K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975013	NM_000186.4(CFH):c.1455T>C (p.Asp485=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974071	NM_000186.4(CFH):c.3311-7T>C	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973545	NM_000186.4(CFH):c.1884A>G (p.Gln628=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972753	NM_000186.4(CFH):c.3336T>C (p.Pro1112=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970777	NM_000186.4(CFH):c.708A>G (p.Lys236=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969444	NM_000186.4(CFH):c.2956+13G>T	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968798	NM_000186.4(CFH):c.1874-14T>C	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968357	NM_000186.4(CFH):c.1856A>G (p.Asp619Gly)	CFH (D619G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965686	NM_000186.4(CFH):c.1005A>G (p.Leu335=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964972	NM_000186.4(CFH):c.3427C>A (p.Gln1143Lys)	CFH (Q1143K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963124	NM_000186.4(CFH):c.270T>C (p.Asp90=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962885	NM_000186.4(CFH):c.3119G>A (p.Arg1040Lys)	CFH (R1040K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961744	NM_000186.4(CFH):c.1451C>A (p.Ala484Glu)	CFH (A484E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958970	NM_000186.4(CFH):c.2448G>A (p.Gln816=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958820	NM_000186.4(CFH):c.1443T>C (p.Tyr481=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958236	NM_000186.4(CFH):c.336T>C (p.Tyr112=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956419	NM_000186.4(CFH):c.1968A>C (p.Glu656Asp)	CFH (E656D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915355	NM_000186.4(CFH):c.493G>T (p.Asp165Tyr)	CFH (D165Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910129	NM_000186.4(CFH):c.1565A>G (p.Asp522Gly)	CFH (D522G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910128	NM_000186.4(CFH):c.430G>A (p.Val144Met)	CFH (V144M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906302	NM_000186.4(CFH):c.3327T>C (p.Cys1109=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906182	NM_000186.4(CFH):c.798A>G (p.Ser266=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903914	NM_000186.4(CFH):c.1224G>C (p.Gln408His)	CFH (Q408H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900413	NM_000186.4(CFH):c.590T>C (p.Phe197Ser)	CFH (F197S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900057	NM_000186.4(CFH):c.558A>T (p.Gly186=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896726	NM_000186.4(CFH):c.2650T>C (p.Ser884Pro)	CFH (S884P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891627	NM_000186.4(CFH):c.2839G>C (p.Asp947His)	CFH (D947H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887858	NM_000186.4(CFH):c.2057-5C>T	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885312	NM_000186.4(CFH):c.1092G>T (p.Pro364=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880585	NM_000186.4(CFH):c.205G>C (p.Gly69Arg)	CFH (G69R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877779	NM_000186.4(CFH):c.2850G>A (p.Gln950=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877286	NM_000186.4(CFH):c.469A>G (p.Ile157Val)	CFH (I157V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876283	NM_000186.4(CFH):c.123A>G (p.Thr41=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875473	NM_000186.4(CFH):c.1581G>A (p.Lys527=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874923	NM_000186.4(CFH):c.73C>T (p.Pro25Ser)	CFH (P25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873928	NM_000186.4(CFH):c.2828C>T (p.Ala943Val)	CFH (A943V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872396	NM_000186.4(CFH):c.159C>G (p.Arg53=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871264	NM_000186.4(CFH):c.1874-3T>C	CFH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2861829	NM_000186.4(CFH):c.2414-10T>C	CFH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2861274	NM_000186.4(CFH):c.2783-9T>C	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860948	NM_000186.4(CFH):c.2915A>G (p.Lys972Arg)	CFH (K972R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860743	NM_000186.4(CFH):c.2962G>T (p.Asp988Tyr)	CFH (D988Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854743	NM_000186.4(CFH):c.350+16G>T	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854664	NM_000186.4(CFH):c.2057-8T>G	CFH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853968	NM_000186.4(CFH):c.138C>G (p.Thr46=)	CFH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851842	NM_000186.4(CFH):c.1777T>A (p.Leu593Met)	CFH (L593M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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