ClinVar for MedGen (Select 412743) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25074201.	NM_000186.4(CFH):c.2975T>G (p.Leu992Ter) GRCh37: Chr1:196711023 GRCh38: Chr1:196741893	CFH	L992*	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely pathogenic (Jun 13, 2023)	criteria provided, single submitter
Select item 25000152.	NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp) GRCh37: Chr1:196712754 GRCh38: Chr1:196743624	CFH	C1102W	Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24293763.	NM_000186.4(CFH):c.3173_3182del (p.Ala1057_Tyr1058insTer) GRCh37: Chr1:196712621-196712630 GRCh38: Chr1:196743491-196743500	CFH		Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely pathogenic (Jan 20, 2023)	criteria provided, single submitter
Select item 16937114.	NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) GRCh37: Chr1:196712608 GRCh38: Chr1:196743478	CFH	V1054I	not provided, Basal laminar drusen, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16872845.	NM_000186.4(CFH):c.3449T>G (p.Ile1150Arg) GRCh37: Chr1:196715085 GRCh38: Chr1:196745955	CFH	I1150R	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 16780866.	NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer) GRCh37: Chr1:196788993 GRCh38: Chr1:196819863	CFHR1		Age related macular degeneration 1, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 16681207.	NM_000186.4(CFH):c.2783-3dup GRCh37: Chr1:196709736-196709737 GRCh38: Chr1:196740606-196740607	CFH		Factor H deficiency, Basal laminar drusen, not provided, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Atypical hemolytic-uremic syndrome	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16428208.	NM_000186.4(CFH):c.59-16T>C GRCh37: Chr1:196642092 GRCh38: Chr1:196672962	CFH		Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, not provided, Factor H deficiency, Basal laminar drusen, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16413989.	NM_000186.4(CFH):c.2236+18A>G GRCh37: Chr1:196696088 GRCh38: Chr1:196726958	CFH		Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency, not provided, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 163093910.	NM_000186.4(CFH):c.2957-15T>C GRCh37: Chr1:196710990 GRCh38: Chr1:196741860	CFH		Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency, not provided, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 162466011.	NM_000186.4(CFH):c.906C>G (p.Thr302=) GRCh37: Chr1:196654309 GRCh38: Chr1:196685179	CFH		Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Likely benign (Oct 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 161201612.	NM_000186.4(CFH):c.350+15C>T GRCh37: Chr1:196643107 GRCh38: Chr1:196673977	CFH		not provided, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 160500513.	NM_000186.4(CFH):c.2056+16T>C GRCh37: Chr1:196695798 GRCh38: Chr1:196726668	CFH		not provided, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen, Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 160064814.	NM_000186.4(CFH):c.2821G>T (p.Val941Phe) GRCh37: Chr1:196709787 GRCh38: Chr1:196740657	CFH	V941F	Basal laminar drusen, Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159106415.	NM_000186.4(CFH):c.245-9del GRCh37: Chr1:196642970 GRCh38: Chr1:196673840	CFH		Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158857016.	NM_000186.4(CFH):c.3045T>C (p.Thr1015=) GRCh37: Chr1:196711093 GRCh38: Chr1:196741963	CFH		Kidney disorder, Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 157656017.	NM_000186.4(CFH):c.807T>C (p.Asn269=) GRCh37: Chr1:196654210 GRCh38: Chr1:196685080	CFH		Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Likely benign (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156383318.	NM_000186.4(CFH):c.2946A>G (p.Pro982=) GRCh37: Chr1:196709912 GRCh38: Chr1:196740782	CFH		not provided, Basal laminar drusen, Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Atypical hemolytic-uremic syndrome	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155372019.	NM_000186.4(CFH):c.245-9dup GRCh37: Chr1:196642969-196642970 GRCh38: Chr1:196673839-196673840	CFH		Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Basal laminar drusen, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Basal laminar drusen, not provided, Age related macular degeneration 4	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 154721920.	NM_000186.4(CFH):c.318T>C (p.Tyr106=) GRCh37: Chr1:196643060 GRCh38: Chr1:196673930	CFH		Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Likely benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154555921.	NM_000186.4(CFH):c.2868G>A (p.Thr956=) GRCh37: Chr1:196709834 GRCh38: Chr1:196740704	CFH		not provided, Basal laminar drusen, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4	Likely benign (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151994222.	NM_000186.4(CFH):c.1998G>T (p.Lys666Asn) GRCh37: Chr1:196695724 GRCh38: Chr1:196726594	CFH	K666N	not provided, Age related macular degeneration 4, Factor H deficiency, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150708223.	NM_000186.4(CFH):c.1511C>T (p.Thr504Met) GRCh37: Chr1:196683039 GRCh38: Chr1:196713909	CFH	T504M	not provided, Inborn genetic diseases, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen	Uncertain significance (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148805424.	NM_000186.4(CFH):c.2054T>C (p.Ile685Thr) GRCh37: Chr1:196695780 GRCh38: Chr1:196726650	CFH	I685T	not provided, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4, Basal laminar drusen	Uncertain significance (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145034825.	NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) GRCh37: Chr1:196694427 GRCh38: Chr1:196725297	CFH	E625*	not provided, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144578526.	NM_000186.4(CFH):c.2047G>A (p.Val683Met) GRCh37: Chr1:196695773 GRCh38: Chr1:196726643	CFH	V683M	Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, CFH-related condition, not provided	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143150327.	NM_000186.4(CFH):c.2488C>T (p.Arg830Trp) GRCh37: Chr1:196706028 GRCh38: Chr1:196736898	CFH	R830W	Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Basal laminar drusen, Age related macular degeneration 4, not provided	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143084228.	NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe) GRCh37: Chr1:196714994 GRCh38: Chr1:196745864	CFH	I1120F	not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141772629.	NM_000186.4(CFH):c.213G>A (p.Trp71Ter) GRCh37: Chr1:196642262 GRCh38: Chr1:196673132	CFH	W71*	Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, CFH-related condition, not provided	Pathogenic/Likely pathogenic (Mar 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141533730.	NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly) GRCh37: Chr1:196711178 GRCh38: Chr1:196742048	CFH	R1044G	not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141315531.	NM_000186.4(CFH):c.1697-3A>C GRCh37: Chr1:196694248 GRCh38: Chr1:196725118	CFH		Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Basal laminar drusen, Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided, Age related macular degeneration 4	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 140315232.	NM_000186.4(CFH):c.476G>A (p.Ser159Asn) GRCh37: Chr1:196646654 GRCh38: Chr1:196677524	CFH	S159N	Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140315133.	NM_000186.4(CFH):c.332T>A (p.Val111Glu) GRCh37: Chr1:196643074 GRCh38: Chr1:196673944	CFH	V111E	Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139920534.	NM_000186.4(CFH):c.1922T>C (p.Val641Ala) GRCh37: Chr1:196695648 GRCh38: Chr1:196726518	CFH	V641A	Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139920435.	NM_000186.4(CFH):c.889G>A (p.Gly297Ser) GRCh37: Chr1:196654292 GRCh38: Chr1:196685162	CFH	G297S	Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139864336.	NM_000186.4(CFH):c.2195C>T (p.Thr732Met) GRCh37: Chr1:196696029 GRCh38: Chr1:196726899	CFH	T732M	Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Age related macular degeneration 4, not provided	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139712737.	NM_000186.4(CFH):c.2416G>T (p.Ala806Ser) GRCh37: Chr1:196705956 GRCh38: Chr1:196736826	CFH	A806S	Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Age related macular degeneration 4, not provided	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139302838.	NM_000186.4(CFH):c.1474A>G (p.Ile492Val) GRCh37: Chr1:196683002 GRCh38: Chr1:196713872	CFH	I492V	Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Age related macular degeneration 4, not provided	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136590139.	NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) GRCh37: Chr1:196705996 GRCh38: Chr1:196736866	CFH	N819S	Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, not provided	Uncertain significance (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136428540.	NM_000186.4(CFH):c.497G>T (p.Arg166Leu) GRCh37: Chr1:196646675 GRCh38: Chr1:196677545	CFH	R166L	Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, not provided	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135887641.	NM_000186.4(CFH):c.526T>C (p.Phe176Leu) GRCh37: Chr1:196646704 GRCh38: Chr1:196677574	CFH	F176L	Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, not provided	Uncertain significance (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 135588642.	NM_000186.4(CFH):c.100A>T (p.Thr34Ser) GRCh37: Chr1:196642149 GRCh38: Chr1:196673019	CFH	T34S	not provided, Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135534943.	NM_000186.4(CFH):c.565G>A (p.Glu189Lys) GRCh37: Chr1:196646743 GRCh38: Chr1:196677613	CFH	E189K	Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, not provided	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134941044.	NM_000186.4(CFH):c.1744C>T (p.Arg582Cys) GRCh37: Chr1:196694298 GRCh38: Chr1:196725168	CFH	R582C	not provided, Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency	Uncertain significance (Dec 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134290445.	NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys) GRCh37: Chr1:196716363 GRCh38: Chr1:196747233	CFH	R1206C	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 133341046.	NM_000186.4(CFH):c.672G>T (p.Lys224Asn) GRCh37: Chr1:196648805 GRCh38: Chr1:196679675	CFH	K224N	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 130361547.	NM_000186.4(CFH):c.2072G>C (p.Cys691Ser) GRCh37: Chr1:196695906 GRCh38: Chr1:196726776	CFH	C691S	Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, not provided	Uncertain significance (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128461048.	NM_000186.4(CFH):c.3150T>C (p.Asn1050=) GRCh37: Chr1:196712598 GRCh38: Chr1:196743468	CFH		Kidney disorder, Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, not specified	Benign/Likely benign (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128454249.	NM_000186.4(CFH):c.1159+19T>G GRCh37: Chr1:196658763 GRCh38: Chr1:196689633	CFH		Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided, Age related macular degeneration 4, Factor H deficiency, Basal laminar drusen	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 127582250.	NM_000186.4(CFH):c.1357A>T (p.Ile453Leu) GRCh37: Chr1:196682885 GRCh38: Chr1:196713755	CFH	I453L	Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Atypical hemolytic-uremic syndrome with I factor anomaly	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120973551.	NM_000186.4(CFH):c.59-36C>T GRCh37: Chr1:196642072 GRCh38: Chr1:196672942	CFH		Age related macular degeneration 4, not provided, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency	Benign (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116860752.	NM_000186.4(CFH):c.245-11_245-9dup GRCh37: Chr1:196642969-196642970 GRCh38: Chr1:196673839-196673840	CFH		Atypical hemolytic-uremic syndrome, Factor H deficiency, Age related macular degeneration 4, not provided, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 116641453.	NM_000186.4(CFH):c.245-10_245-9dup GRCh37: Chr1:196642969-196642970 GRCh38: Chr1:196673839-196673840	CFH		Atypical hemolytic-uremic syndrome, Factor H deficiency, not provided, Age related macular degeneration 4, not specified, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4, Factor H deficiency, Basal laminar drusen, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1 ...see more	Benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 116376854.	NM_021023.6(CFHR3):c.839_840del (p.Ile280fs) GRCh37: Chr1:196762488-196762489 GRCh38: Chr1:196793358-196793359	CFHR3	I219fs, I280fs	not specified, not provided, Age related macular degeneration 1, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116288355.	NM_000186.4(CFH):c.122C>T (p.Thr41Ile) GRCh37: Chr1:196642171 GRCh38: Chr1:196673041	CFH	T41I	Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen, not provided	Uncertain significance (Jan 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113369856.	NM_000186.4(CFH):c.245-17T>A GRCh37: Chr1:196642970 GRCh38: Chr1:196673840	CFH		Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, not provided, Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 113065357.	NM_000186.4(CFH):c.849A>G (p.Lys283=) GRCh37: Chr1:196654252 GRCh38: Chr1:196685122	CFH		not provided, Basal laminar drusen, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4	Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111143058.	NM_000186.4(CFH):c.964+18C>A GRCh37: Chr1:196654385 GRCh38: Chr1:196685255	CFH		not provided, Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Factor H deficiency, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 108008059.	NM_000186.4(CFH):c.1935G>A (p.Thr645=) GRCh37: Chr1:196695661 GRCh38: Chr1:196726531	CFH		not provided, Basal laminar drusen, Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106824960.	NM_000186.4(CFH):c.157C>T (p.Arg53Cys) GRCh37: Chr1:196642206 GRCh38: Chr1:196673076	CFH	R53C	not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4	Pathogenic/Likely pathogenic (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105779861.	NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro) GRCh37: Chr1:196711127 GRCh38: Chr1:196741997	CFH	A1027P	Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103224462.	NM_000186.4(CFH):c.506A>G (p.His169Arg) GRCh37: Chr1:196646684 GRCh38: Chr1:196677554	CFH	H169R	Hemolytic uremic syndrome, atypical, susceptibility to, 1, CFH-related disorder, not provided	Uncertain significance (Nov 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103224363.	NM_000186.4(CFH):c.497G>A (p.Arg166Gln) GRCh37: Chr1:196646675 GRCh38: Chr1:196677545	CFH	R166Q	not provided, Basal laminar drusen, Basal laminar drusen, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4	Uncertain significance (Sep 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102955964.	NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn) GRCh37: Chr1:196799665 GRCh38: Chr1:196830535	CFHR1	D160N, D198N, D134N, D150N, D159N, D215N, D147N, D161N	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Jul 8, 2020)	criteria provided, single submitter
Select item 102331865.	NM_000186.4(CFH):c.2151C>A (p.Phe717Leu) GRCh37: Chr1:196695985 GRCh38: Chr1:196726855	CFH	F717L	Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Age related macular degeneration 4, Factor H deficiency, not provided	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101110966.	NM_000186.4(CFH):c.647T>C (p.Ile216Thr) GRCh37: Chr1:196648780 GRCh38: Chr1:196679650	CFH	I216T	Inborn genetic diseases, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen, not provided	Uncertain significance (Aug 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 100894467.	NM_000186.4(CFH):c.472G>A (p.Val158Ile) GRCh37: Chr1:196646650 GRCh38: Chr1:196677520	CFH	V158I	not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100692168.	NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) GRCh37: Chr1:196659231 GRCh38: Chr1:196690101	CFH	Q400K	Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4, Factor H deficiency, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98821869.	NM_000186.4(CFH):c.1825G>A (p.Val609Ile) GRCh37: Chr1:196694379 GRCh38: Chr1:196725249	CFH	V609I	Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Basal laminar drusen, not provided	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97779470.	NM_000186.4(CFH):c.1616G>T (p.Gly539Val) GRCh37: Chr1:196684819 GRCh38: Chr1:196715689	CFH	G539V	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance	no assertion criteria provided
Select item 87685271.	NM_000186.4(CFH):c.33G>T (p.Met11Ile) GRCh37: Chr1:196621280 GRCh38: Chr1:196652150	CFH	M11I	Basal laminar drusen, not provided, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	Uncertain significance (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87615372.	NM_000186.4(CFH):c.2596+8G>T GRCh37: Chr1:196706144 GRCh38: Chr1:196737014	CFH		not provided, Basal laminar drusen, Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 87602973.	NM_000186.4(CFH):c.1451C>T (p.Ala484Val) GRCh37: Chr1:196682979 GRCh38: Chr1:196713849	CFH	A484V	Basal laminar drusen, Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87596474.	NM_000186.4(CFH):c.907C>T (p.Arg303Trp) GRCh37: Chr1:196654310 GRCh38: Chr1:196685180	CFH	R303W	Basal laminar drusen, not provided, Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 87585875.	NM_000186.4(CFH):c.16A>G (p.Lys6Glu) GRCh37: Chr1:196621263 GRCh38: Chr1:196652133	CFH	K6E	Basal laminar drusen, not provided, Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 87585776.	NM_000186.4(CFH):c.7C>G (p.Leu3Val) GRCh37: Chr1:196621254 GRCh38: Chr1:196652124	CFH	L3V	Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87539077.	NM_000186.4(CFH):c.3156C>T (p.Pro1052=) GRCh37: Chr1:196712604 GRCh38: Chr1:196743474	CFH		Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 87533778.	NM_000186.4(CFH):c.3134-5T>C GRCh37: Chr1:196712577 GRCh38: Chr1:196743447	CFH		Atypical hemolytic-uremic syndrome, Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Conflicting interpretations of pathogenicity (Feb 1, 2020)	criteria provided, conflicting interpretations
Select item 87524379.	NM_000186.4(CFH):c.2763T>C (p.Ser921=) GRCh37: Chr1:196706771 GRCh38: Chr1:196737641	CFH		Basal laminar drusen, Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87519380.	NM_000186.4(CFH):c.2424A>G (p.Ile808Met) GRCh37: Chr1:196705964 GRCh38: Chr1:196736834	CFH	I808M	Basal laminar drusen, Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Conflicting interpretations of pathogenicity (Sep 17, 2022)	criteria provided, conflicting interpretations
Select item 87513381.	NM_000186.4(CFH):c.1984A>G (p.Arg662Gly) GRCh37: Chr1:196695710 GRCh38: Chr1:196726580	CFH	R662G	Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87508782.	NM_000186.4(CFH):c.1418C>T (p.Ala473Val) GRCh37: Chr1:196682946 GRCh38: Chr1:196713816	CFH	A473V	not provided, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Basal laminar drusen, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 87503883.	NM_000186.4(CFH):c.879G>A (p.Gln293=) GRCh37: Chr1:196654282 GRCh38: Chr1:196685152	CFH		Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 87497984.	NM_000186.4(CFH):c.245-15T>C GRCh37: Chr1:196642972 GRCh38: Chr1:196673842	CFH		Hemolytic uremic syndrome, atypical, susceptibility to, 1, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, not provided, Basal laminar drusen, Age related macular degeneration 4	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 87452285.	NM_000186.4(CFH):c.3291G>A (p.Thr1097=) GRCh37: Chr1:196712739 GRCh38: Chr1:196743609	CFH		Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Age related macular degeneration 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87438286.	NM_000186.4(CFH):c.2956+13G>A GRCh37: Chr1:196709935 GRCh38: Chr1:196740805	CFH		Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 87438187.	NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) GRCh37: Chr1:196709910 GRCh38: Chr1:196740780	CFH	P982S	Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Conflicting interpretations of pathogenicity (Apr 27, 2017)	criteria provided, conflicting interpretations
Select item 87426488.	NM_000186.4(CFH):c.2314G>A (p.Asp772Asn) GRCh37: Chr1:196697553 GRCh38: Chr1:196728423	CFH	D772N	Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 87426389.	NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) GRCh37: Chr1:196697517 GRCh38: Chr1:196728387	CFH	I760L	Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Inborn genetic diseases	Uncertain significance (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87405290.	NM_000186.4(CFH):c.172T>G (p.Ser58Ala) GRCh37: Chr1:196642221 GRCh38: Chr1:196673091	CFH	S58A	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Basal laminar drusen, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 87357991.	NM_000186.4(CFH):c.*127G>T GRCh37: Chr1:196716570 GRCh38: Chr1:196747440	CFH		Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87121092.	NM_000186.4(CFH):c.1612G>C (p.Asp538His) GRCh37: Chr1:196684815 GRCh38: Chr1:196715685	CFH	D538H	not provided, Basal laminar drusen, Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83000493.	NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) GRCh37: Chr1:196694253 GRCh38: Chr1:196725123	CFH	R567G	Basal laminar drusen, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4	Uncertain significance (Oct 1, 2021)	criteria provided, single submitter
Select item 82995094.	NM_000186.4(CFH):c.2794A>C (p.Lys932Gln) GRCh37: Chr1:196709760 GRCh38: Chr1:196740630	CFH	K932Q	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Uncertain significance (Apr 26, 2019)	no assertion criteria provided
Select item 82994995.	NM_000186.4(CFH):c.2535dup (p.Gln846fs) GRCh37: Chr1:196706073-196706074 GRCh38: Chr1:196736943-196736944	CFH	Q846fs	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Pathogenic (Apr 26, 2019)	no assertion criteria provided
Select item 82988996.	NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) GRCh37: Chr1:196709866 GRCh38: Chr1:196740736	CFH	G967E	not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82982497.	NM_000186.4(CFH):c.3134-2A>G GRCh37: Chr1:196712580 GRCh38: Chr1:196743450	CFH		Hemolytic uremic syndrome, atypical, susceptibility to, 1	Pathogenic (Apr 4, 2019)	no assertion criteria provided
Select item 81270898.	NM_003647.3(DGKE):c.942C>G (p.Asn314Lys) GRCh37: Chr17:54926110 GRCh38: Chr17:56848749	DGKE	N314K	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Likely pathogenic (Nov 14, 2019)	criteria provided, single submitter
Select item 81250999.	NM_003647.3(DGKE):c.447del (p.Lys150fs) GRCh37: Chr17:54912601 GRCh38: Chr17:56835240	DGKE	K150fs	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Pathogenic	criteria provided, single submitter
Select item 799362100.	NM_000186.4(CFH):c.3318A>G (p.Thr1106=) GRCh37: Chr1:196714954 GRCh38: Chr1:196745824	CFH		Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, not provided	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts

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