Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)	SNV Germline	Chr1:196747260	Pathogenic; risk factor	Atypical hemolytic-uremic syndrome Hemolytic uremic syndrome, atypical, susceptibility to, 1	No Assertion Criteria Provided	CA257490	rs_121913051	2 SubmittersRCV001328244 RCV000018008
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)	SNV Germline	Chr1:196747189	Pathogenic	CFH-related disorder Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Factor H deficiency Factor H deficiency	Criteria Provided Multiple Submitters No Conflicts	CA341428	rs_460897	7 SubmittersRCV004528119 RCV000018011 RCV001843942 RCV002496396 RCV003450644
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)	SNV Germline	Chr1:196737575	Pathogenic; risk factor	Hemolytic uremic syndrome, atypical, susceptibility to, 1	No Assertion Criteria Provided	CA257510	rs_121913057	2 SubmittersRCV000018020
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	SNV Germline	Chr1:196747245	Conflicting classifications of pathogenicity	Age related macular degeneration 4 Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Factor H deficiency CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Basal laminar drusen Atypical hemolytic-uremic syndrome Condition: not provided Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Retinal dystrophy Kidney disorder	Criteria Provided Conflicting Classifications	CA128563	rs_121913059	9 SubmittersRCV000022540 RCV001536004 RCV001099303 RCV001099304 RCV001328126 RCV001508947 RCV000018025 RCV000018026 RCV004814908 RCV002293983
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)	SNV Germline	Chr1:196747207	Pathogenic/Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided Age related macular degeneration 4 Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Factor H deficiency	Criteria Provided Multiple Submitters No Conflicts	CA341616	rs_460184	6 SubmittersRCV000020180 RCV001843943 RCV002490396 RCV003450649
NM_003647.3(DGKE):c.32C>A (p.Ser11Ter)	SNV Germline	Chr17:56834827	Likely pathogenic; risk factor	Hemolytic uremic syndrome, atypical, susceptibility to, 7 Atypical hemolytic-uremic syndrome	No Assertion Criteria Provided	CA143787	rs_148605410	2 SubmittersRCV000043570 RCV000122612
NM_003647.3(DGKE):c.818G>C (p.Arg273Pro)	SNV Germline	Chr17:56847995	Likely pathogenic; risk factor	Hemolytic uremic syndrome, atypical, susceptibility to, 7 Atypical hemolytic-uremic syndrome	No Assertion Criteria Provided	CA143789	rs_312262695	2 SubmittersRCV000043571 RCV000122615
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)	SNV Germline	Chr17:56848773	Pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 7 Atypical hemolytic-uremic syndrome Immunoglobulin-mediated membranoproliferative glomerulonephritis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA332175	rs_138924661	8 SubmittersRCV000043567 RCV000122617 RCV000760165 RCV001854681
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)	SNV Germline	Chr1:196740786	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter	CA10588915	rs_886039869	2 SubmittersRCV000256395
NM_000186.4(CFH):c.1949G>T (p.Gly650Val)	SNV Germline	Chr1:196726545	Conflicting classifications of pathogenicity	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Condition: not provided Basal laminar drusen Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Factor H deficiency CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA1305536	rs_143237092	5 SubmittersRCV000289073 RCV000344087 RCV001317993 RCV000309119 RCV005003619 RCV000403698 RCV002294228
NM_000186.4(CFH):c.285T>C (p.Thr95=)	SNV Germline	Chr1:196673897	Conflicting classifications of pathogenicity	Age related macular degeneration 4 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen CFH-related disorder CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Condition: not provided	Criteria Provided Conflicting Classifications	CA1305003	rs_148182625	6 SubmittersRCV000364080 RCV000306968 RCV000315031 RCV004543159 RCV000395440 RCV000900050
NM_000186.4(CFH):c.1204C>T (p.His402Tyr)	SNV Germline	Chr1:196690107	Conflicting classifications of pathogenicity	Age related macular degeneration 4 Basal laminar drusen CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic uremic syndrome, atypical, susceptibility to, 1 Factor H deficiency Condition: not provided Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA1305284	rs_1061170	7 SubmittersRCV000327040 RCV000296616 RCV000349294 RCV000388493 RCV001579193 RCV001521610 RCV002294225
NM_000186.4(CFH):c.3310+12T>C	SNV Germline	Chr1:196743640	Conflicting classifications of pathogenicity	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA1305907	rs_757045842	1 SubmittersRCV000303163 RCV000405879 RCV000308000 RCV000361627
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys)	SNV Germline	Chr1:196715621	Conflicting classifications of pathogenicity	Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Condition: not provided Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Factor H deficiency	Criteria Provided Conflicting Classifications	CA1305438	rs_147403664	6 SubmittersRCV000269675 RCV000310698 RCV000365181 RCV001508934 RCV000364256 RCV005003618
NM_000186.4(CFH):c.2784C>A (p.Gly928=)	SNV Germline	Chr1:196740620	Conflicting classifications of pathogenicity	Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Condition: not provided	Criteria Provided Conflicting Classifications	CA1305752	rs_755926856	2 SubmittersRCV000406782 RCV000342703 RCV000301863 RCV000338500 RCV003718151
NM_000186.4(CFH):c.2850G>T (p.Gln950His)	SNV Germline	Chr1:196740686	Conflicting classifications of pathogenicity	Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Condition: not provided Atypical hemolytic-uremic syndrome not specified	Criteria Provided Conflicting Classifications	CA1305760	rs_149474608	9 SubmittersRCV000273876 RCV000308622 RCV000333684 RCV000367943 RCV000972577 RCV002294234 RCV000735110
NM_000186.4(CFH):c.770G>A (p.Arg257His)	SNV Germline	Chr1:196679773	Conflicting classifications of pathogenicity	Basal laminar drusen Age related macular degeneration 4 Condition: not provided Hemolytic uremic syndrome, atypical, susceptibility to, 1 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA1305141	rs_140107330	3 SubmittersRCV000312490 RCV000406363 RCV001859772 RCV000297641 RCV000336891 RCV002294223
NM_000186.4(CFH):c.2196G>A (p.Thr732=)	SNV Germline	Chr1:196726900	Conflicting classifications of pathogenicity	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA1305597	rs_144325643	2 SubmittersRCV000260677 RCV000265889 RCV000316028 RCV000356749 RCV002059407
NM_000186.4(CFH):c.2867C>T (p.Thr956Met)	SNV Germline	Chr1:196740703	Conflicting classifications of pathogenicity	Basal laminar drusen CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Age related macular degeneration 4 Condition: not provided Hemolytic uremic syndrome, atypical, susceptibility to, 1 CFH-related disorder Atypical hemolytic-uremic syndrome Non-immunoglobulin-mediated membranoproliferative glomerulonephritis not specified	Criteria Provided Conflicting Classifications	CA1305764	rs_145975787	8 SubmittersRCV000315933 RCV000260915 RCV000388064 RCV000835731 RCV000375168 RCV004537633 RCV002294235 RCV001849179 RCV003987498
NM_000186.4(CFH):c.2957-7A>G	SNV Germline	Chr1:196741868	Conflicting classifications of pathogenicity	Basal laminar drusen CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Age related macular degeneration 4 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided CFH-related disorder	Criteria Provided Conflicting Classifications	CA1305802	rs_190778135	3 SubmittersRCV000286931 RCV000376768 RCV000340481 RCV000280777 RCV002059408 RCV004537634
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)	SNV Germline	Chr1:196741922	Conflicting classifications of pathogenicity	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Age related macular degeneration 4 Condition: not provided Retinal dystrophy Atypical hemolytic-uremic syndrome not specified	Criteria Provided Conflicting Classifications	CA1305806	rs_201816520	6 SubmittersRCV000408202 RCV000307054 RCV000341877 RCV000347912 RCV001850510 RCV004816522 RCV002294236 RCV004701396
NM_000186.4(CFH):c.1736T>C (p.Val579Ala)	SNV Germline	Chr1:196725160	Conflicting classifications of pathogenicity	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Basal laminar drusen Condition: not provided Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Factor H deficiency	Criteria Provided Conflicting Classifications	CA1305475	rs_201411537	3 SubmittersRCV000317574 RCV000372197 RCV000336971 RCV000282381 RCV001850509 RCV005008265
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter)	SNV Germline	Chr1:196747260	Likely pathogenic	Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Factor H deficiency	Criteria Provided Single Submitter	CA1305996	rs_121913051	1 SubmittersRCV005003620
NM_000186.4(CFH):c.3133+4C>G	SNV Germline	Chr1:196742055	Conflicting classifications of pathogenicity	Condition: 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 CFH-related disorder Optic atrophy Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Basal laminar drusen not specified	Criteria Provided Conflicting Classifications	CA1305828	rs_374729595	8 SubmittersRCV000735108 RCV001101089 RCV001101088 RCV001097347 RCV001097348 RCV004535884 RCV004817965 RCV005004396 RCV004526766
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter)	SNV Germline	Chr1:196689581	Pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	No Assertion Criteria Provided	CA343980186	rs_1573026975	1 SubmittersRCV000786952
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser)	SNV Germline	Chr1:196747159	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	No Assertion Criteria Provided	CA343987358	rs_1573087200	1 SubmittersRCV000787023
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys)	SNV Germline	Chr17:56848749	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter	CA399927850	rs_749415630	1 SubmittersRCV001201397
NM_000186.4(CFH):c.3134-2A>G	SNV Germline	Chr1:196743450	Pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	No Assertion Criteria Provided	CA343982709	rs_1300996807	1 SubmittersRCV001029760
NM_000186.4(CFH):c.7C>G (p.Leu3Val)	SNV Germline	Chr1:196652124	Conflicting classifications of pathogenicity	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Basal laminar drusen Condition: not provided Factor H deficiency Factor H deficiency Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4	Criteria Provided Conflicting Classifications	CA1304907	rs_139254423	6 SubmittersRCV001100100 RCV001100102 RCV001100099 RCV001100101 RCV001856358 RCV003449555 RCV005005043
NM_000186.4(CFH):c.16A>G (p.Lys6Glu)	SNV Germline	Chr1:196652133	Conflicting classifications of pathogenicity	Basal laminar drusen CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Condition: not provided Age related macular degeneration 4 Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA1304909	rs_749875053	2 SubmittersRCV001100104 RCV001100103 RCV002554957 RCV001102092 RCV001102093
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)	SNV Germline	Chr1:196673091	Conflicting classifications of pathogenicity	Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II not specified Condition: not provided Factor H deficiency Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA1304959	rs_141336681	7 SubmittersRCV001096686 RCV001096683 RCV001096685 RCV001096684 RCV004782648 RCV001724249 RCV005012551
NM_000186.4(CFH):c.879G>A (p.Gln293=)	SNV Germline	Chr1:196685152	Conflicting classifications of pathogenicity	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Age related macular degeneration 4	Criteria Provided Conflicting Classifications	CA1305189	rs_769615121	1 SubmittersRCV001098525 RCV001098526 RCV001100288 RCV001100289
NM_000186.4(CFH):c.907C>T (p.Arg303Trp)	SNV Germline	Chr1:196685180	Conflicting classifications of pathogenicity	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA1305197	rs_142937931	2 SubmittersRCV001100290 RCV001100291 RCV001100292 RCV001100293 RCV001856363
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)	SNV Germline	Chr1:196713816	Conflicting classifications of pathogenicity	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Age related macular degeneration 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA1305391	rs_371053403	3 SubmittersRCV001098618 RCV001098619 RCV001098620 RCV001098621 RCV001856332
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)	SNV Germline	Chr1:196736834	Conflicting classifications of pathogenicity	Basal laminar drusen CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Factor H deficiency Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA1305665	rs_752302466	4 SubmittersRCV001098821 RCV001098818 RCV001098819 RCV001098820 RCV005012552 RCV002554929
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)	SNV Germline	Chr1:196740780	Conflicting classifications of pathogenicity	Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Age related macular degeneration 4 Inborn genetic diseases Basal laminar drusen Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA1305781	rs_149938052	4 SubmittersRCV001097264 RCV001097265 RCV001100998 RCV001100999 RCV005540274 RCV005005039 RCV005093470
NM_000186.4(CFH):c.3156C>T (p.Pro1052=)	SNV Germline	Chr1:196743474	Conflicting classifications of pathogenicity	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Basal laminar drusen	Criteria Provided Conflicting Classifications	CA1305861	rs_764539113	1 SubmittersRCV001099196 RCV001099197 RCV001101195 RCV001101194
NM_000186.4(CFH):c.245-15T>C	SNV Germline	Chr1:196673842	Conflicting classifications of pathogenicity	Hemolytic uremic syndrome, atypical, susceptibility to, 1 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Basal laminar drusen Age related macular degeneration 4 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1304994	rs_200079172	3 SubmittersRCV001098416 RCV001098417 RCV001098418 RCV001098419 RCV002067750 RCV005236599
NM_000186.4(CFH):c.2596+8G>T	SNV Germline	Chr1:196737014	Conflicting classifications of pathogenicity	Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Age related macular degeneration 4	Criteria Provided Conflicting Classifications	CA1305687	rs_375176505	2 SubmittersRCV001100634 RCV001100635 RCV002069691 RCV001100907 RCV001100908
NM_000186.4(CFH):c.2956+13G>A	SNV Germline	Chr1:196740805	Conflicting classifications of pathogenicity	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA1305785	rs_572034879	2 SubmittersRCV001097266 RCV001097267 RCV001097269 RCV001097268 RCV002069639
NM_000186.4(CFH):c.3134-5T>C	SNV Germline	Chr1:196743447	Conflicting classifications of pathogenicity	Basal laminar drusen Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided Atypical hemolytic-uremic syndrome not specified	Criteria Provided Conflicting Classifications	CA1305851	rs_513699	7 SubmittersRCV001099100 RCV001099101 RCV001099102 RCV001099103 RCV001573411 RCV002294440 RCV001529004
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)	SNV Germline	Chr1:196673076	Pathogenic/Likely pathogenic	Condition: not provided Hemolytic uremic syndrome, atypical, susceptibility to, 1 Factor H deficiency Basal laminar drusen Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4	Criteria Provided Multiple Submitters No Conflicts	CA1304957	rs_757785149	4 SubmittersRCV001379747 RCV002256753 RCV003450049 RCV002488198
NM_000186.4(CFH):c.427+14G>C	SNV Germline	Chr1:196676079	Conflicting classifications of pathogenicity	Condition: not provided Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Factor H deficiency	Criteria Provided Conflicting Classifications	CA35813074	rs_755841584	2 SubmittersRCV001470472 RCV005005249
NM_000186.4(CFH):c.672G>T (p.Lys224Asn)	SNV Germline	Chr1:196679675	Conflicting classifications of pathogenicity	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Factor H deficiency	Criteria Provided Conflicting Classifications	CA343977768	rs_1408473510	2 SubmittersRCV001808098 RCV003989715
NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys)	SNV Unknown	Chr1:196747233	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter	CA343988072	rs_1573087364	1 SubmittersRCV001842261
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)	SNV Germline	Chr1:196673132	Pathogenic/Likely pathogenic	Condition: not provided Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Factor H deficiency Factor H deficiency CFH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA343996354	rs_1210674261	5 SubmittersRCV001938585 RCV002484526 RCV003452163 RCV004529049
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)	SNV Germline	Chr1:196725297	Pathogenic/Likely pathogenic	Condition: not provided Factor H deficiency Basal laminar drusen Age related macular degeneration 4 Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA1305497	rs_150694809	4 SubmittersRCV002014734 RCV003453840 RCV002507687
NM_000186.4(CFH):c.3045T>C (p.Thr1015=)	SNV Germline	Chr1:196741963	Conflicting classifications of pathogenicity	Condition: not provided Kidney disorder Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Factor H deficiency	Criteria Provided Conflicting Classifications	CA1305812	rs_147864267	3 SubmittersRCV002117060 RCV002294509 RCV002494209
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)	SNV Germline	Chr1:196747182	Conflicting classifications of pathogenicity	Condition: not provided Familial Atypical Hemolytic-Uremic Syndrome Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA343987618	rs_2149118712	3 SubmittersRCV002261585 RCV003324010 RCV004558911
NM_000186.4(CFH):c.791-20T>G	SNV Germline	Chr1:196685044	Conflicting classifications of pathogenicity	Factor H deficiency Basal laminar drusen Age related macular degeneration 4 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA1305171	rs_377743610	2 SubmittersRCV005008660 RCV002621587
NM_000186.4(CFH):c.2236+1G>C	SNV Germline	Chr1:196726941	Likely pathogenic	Condition: not provided CFH-related disorder Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Factor H deficiency	Criteria Provided Multiple Submitters No Conflicts	CA343990064	rs_1274067311	3 SubmittersRCV002642643 RCV004782950 RCV005002859
NM_000186.4(CFH):c.1986A>G (p.Arg662=)	SNV Germline	Chr1:196726582	Conflicting classifications of pathogenicity	Condition: not provided Age related macular degeneration 4 Basal laminar drusen Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA35860689	rs_950210342	2 SubmittersRCV002726989 RCV005008720
NM_000186.4(CFH):c.1735G>A (p.Val579Ile)	SNV Germline	Chr1:196725159	Conflicting classifications of pathogenicity	Condition: not provided Age related macular degeneration 4 Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1305473	rs_532344479	3 SubmittersRCV002805572 RCV005002884 RCV004064741
NM_000186.4(CFH):c.2575C>T (p.Gln859Ter)	SNV Germline	Chr1:196736985	Pathogenic/Likely pathogenic	Basal laminar drusen Age related macular degeneration 4 Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343993151	rs_1669420365	2 SubmittersRCV005002893 RCV002880562
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)	SNV Germline	Chr1:196741893	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter	CA343981362	rs_2529544865	1 SubmittersRCV003239331
NM_000186.4(CFH):c.558A>T (p.Gly186=)	SNV Germline	Chr1:196677606	Conflicting classifications of pathogenicity	Condition: not provided Factor H deficiency Age related macular degeneration 4 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen	Criteria Provided Conflicting Classifications	CA1305089	rs_752610166	2 SubmittersRCV003739945 RCV005013148
NM_000186.4(CFH):c.1520-2A>G	SNV Germline	Chr1:196715591	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter	CA343982672	rs_2529474366	1 SubmittersRCV003991313
NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)	SNV Germline	Chr1:196737487	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter	CA343993551	rs_2529534149	1 SubmittersRCV003991386
NM_000186.4(CFH):c.245-1G>C	SNV Germline	Chr1:196673856	Pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter	CA343976129	rs_1311814991	1 SubmittersRCV004545929
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)	SNV Germline	Chr1:196715763	Conflicting classifications of pathogenicity	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA343983771	rs_1668856710	2 SubmittersRCV004555391 RCV004791692
NM_000186.4(CFH):c.1154G>T (p.Cys385Phe)	SNV Germline	Chr1:196689609	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter	CA343980245	rs_2529386595	1 SubmittersRCV004555460
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)	SNV Germline	Chr1:196747261	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV004788334
NM_000186.4(CFH):c.1673G>A (p.Trp558Ter)	SNV Germline	Chr1:196715746	Likely pathogenic	Condition: not provided Age related macular degeneration 4 Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004792249 RCV005006566
NM_000186.4(CFH):c.39G>A (p.Trp13Ter)	SNV Germline	Chr1:196652156	Likely pathogenic	Factor H deficiency Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV005004894
NM_000186.4(CFH):c.336T>A (p.Tyr112Ter)	SNV Germline	Chr1:196673948	Likely pathogenic	Factor H deficiency Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV005011529
NM_000186.4(CFH):c.620-2A>G	SNV Germline	Chr1:196679621	Likely pathogenic	Factor H deficiency Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV005011577
NM_000186.4(CFH):c.1337-2A>G	SNV Germline	Chr1:196713733	Likely pathogenic	Factor H deficiency Age related macular degeneration 4 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV005011609
NM_000186.4(CFH):c.592T>C (p.Trp198Arg)	SNV Germline	Chr1:196677640	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	No Assertion Criteria Provided			1 SubmittersRCV005052153
NM_000186.4(CFH):c.1343G>A (p.Cys448Tyr)	SNV Germline	Chr1:196713741	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV005215813

NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)

SNV
Germline

Chr1:196747260

Pathogenic; risk factor

Atypical hemolytic-uremic syndrome
Hemolytic uremic syndrome, atypical, susceptibility to, 1

No Assertion Criteria Provided

CA257490

rs_121913051

2 SubmittersRCV001328244 RCV000018008

NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)

SNV
Germline

Chr1:196747189

Pathogenic

CFH-related disorder
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Condition: not provided
Age related macular degeneration 4
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Factor H deficiency
Factor H deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA341428

rs_460897

7 SubmittersRCV004528119 RCV000018011 RCV001843942 RCV002496396 RCV003450644

NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)

SNV
Germline

Chr1:196737575

Pathogenic; risk factor

Hemolytic uremic syndrome, atypical, susceptibility to, 1

No Assertion Criteria Provided

CA257510

rs_121913057

2 SubmittersRCV000018020

NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)

SNV
Germline

Chr1:196747245

Conflicting classifications of pathogenicity

Age related macular degeneration 4
Age related macular degeneration 4
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Factor H deficiency
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Basal laminar drusen
Atypical hemolytic-uremic syndrome
Condition: not provided
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Retinal dystrophy
Kidney disorder

Criteria Provided
Conflicting Classifications

CA128563

rs_121913059

9 SubmittersRCV000022540 RCV001536004 RCV001099303 RCV001099304 RCV001328126 RCV001508947 RCV000018025 RCV000018026 RCV004814908 RCV002293983

NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)

SNV
Germline

Chr1:196747207

Pathogenic/Likely pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1
Condition: not provided
Age related macular degeneration 4
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Basal laminar drusen
Factor H deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA341616

rs_460184

6 SubmittersRCV000020180 RCV001843943 RCV002490396 RCV003450649

NM_003647.3(DGKE):c.32C>A (p.Ser11Ter)

SNV
Germline

Chr17:56834827

Likely pathogenic; risk factor

Hemolytic uremic syndrome, atypical, susceptibility to, 7
Atypical hemolytic-uremic syndrome

No Assertion Criteria Provided

CA143787

rs_148605410

2 SubmittersRCV000043570 RCV000122612

NM_003647.3(DGKE):c.818G>C (p.Arg273Pro)

SNV
Germline

Chr17:56847995

Likely pathogenic; risk factor

Hemolytic uremic syndrome, atypical, susceptibility to, 7
Atypical hemolytic-uremic syndrome

No Assertion Criteria Provided

CA143789

rs_312262695

2 SubmittersRCV000043571 RCV000122615

NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)

SNV
Germline

Chr17:56848773

Pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 7
Atypical hemolytic-uremic syndrome
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA332175

rs_138924661

8 SubmittersRCV000043567 RCV000122617 RCV000760165 RCV001854681

NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)

SNV
Germline

Chr1:196740786

Likely pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Single Submitter

CA10588915

rs_886039869

2 SubmittersRCV000256395

NM_000186.4(CFH):c.1949G>T (p.Gly650Val)

SNV
Germline

Chr1:196726545

Conflicting classifications of pathogenicity

Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Condition: not provided
Basal laminar drusen
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Factor H deficiency
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

CA1305536

rs_143237092

5 SubmittersRCV000289073 RCV000344087 RCV001317993 RCV000309119 RCV005003619 RCV000403698 RCV002294228

NM_000186.4(CFH):c.285T>C (p.Thr95=)

SNV
Germline

Chr1:196673897

Conflicting classifications of pathogenicity

Age related macular degeneration 4
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Basal laminar drusen
CFH-related disorder
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305003

rs_148182625

6 SubmittersRCV000364080 RCV000306968 RCV000315031 RCV004543159 RCV000395440 RCV000900050

NM_000186.4(CFH):c.1204C>T (p.His402Tyr)

SNV
Germline

Chr1:196690107

Conflicting classifications of pathogenicity

Age related macular degeneration 4
Basal laminar drusen
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Factor H deficiency
Condition: not provided
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

CA1305284

rs_1061170

7 SubmittersRCV000327040 RCV000296616 RCV000349294 RCV000388493 RCV001579193 RCV001521610 RCV002294225

NM_000186.4(CFH):c.3310+12T>C

SNV
Germline

Chr1:196743640

Conflicting classifications of pathogenicity

CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Age related macular degeneration 4
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA1305907

rs_757045842

1 SubmittersRCV000303163 RCV000405879 RCV000308000 RCV000361627

NM_000186.4(CFH):c.1548T>A (p.Asn516Lys)

SNV
Germline

Chr1:196715621

Conflicting classifications of pathogenicity

Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Condition: not provided
Age related macular degeneration 4
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Factor H deficiency

Criteria Provided
Conflicting Classifications

CA1305438

rs_147403664

6 SubmittersRCV000269675 RCV000310698 RCV000365181 RCV001508934 RCV000364256 RCV005003618

NM_000186.4(CFH):c.2784C>A (p.Gly928=)

SNV
Germline

Chr1:196740620

Conflicting classifications of pathogenicity

Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305752

rs_755926856

2 SubmittersRCV000406782 RCV000342703 RCV000301863 RCV000338500 RCV003718151

NM_000186.4(CFH):c.2850G>T (p.Gln950His)

SNV
Germline

Chr1:196740686

Conflicting classifications of pathogenicity

Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Condition: not provided
Atypical hemolytic-uremic syndrome
not specified

Criteria Provided
Conflicting Classifications

CA1305760

rs_149474608

9 SubmittersRCV000273876 RCV000308622 RCV000333684 RCV000367943 RCV000972577 RCV002294234 RCV000735110

NM_000186.4(CFH):c.770G>A (p.Arg257His)

SNV
Germline

Chr1:196679773

Conflicting classifications of pathogenicity

Basal laminar drusen
Age related macular degeneration 4
Condition: not provided
Hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

CA1305141

rs_140107330

3 SubmittersRCV000312490 RCV000406363 RCV001859772 RCV000297641 RCV000336891 RCV002294223

NM_000186.4(CFH):c.2196G>A (p.Thr732=)

SNV
Germline

Chr1:196726900

Conflicting classifications of pathogenicity

CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305597

rs_144325643

2 SubmittersRCV000260677 RCV000265889 RCV000316028 RCV000356749 RCV002059407

NM_000186.4(CFH):c.2867C>T (p.Thr956Met)

SNV
Germline

Chr1:196740703

Conflicting classifications of pathogenicity

Basal laminar drusen
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Age related macular degeneration 4
Condition: not provided
Hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH-related disorder
Atypical hemolytic-uremic syndrome
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
not specified

Criteria Provided
Conflicting Classifications

CA1305764

rs_145975787

8 SubmittersRCV000315933 RCV000260915 RCV000388064 RCV000835731 RCV000375168 RCV004537633 RCV002294235 RCV001849179 RCV003987498

NM_000186.4(CFH):c.2957-7A>G

SNV
Germline

Chr1:196741868

Conflicting classifications of pathogenicity

Basal laminar drusen
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Age related macular degeneration 4
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Condition: not provided
CFH-related disorder

Criteria Provided
Conflicting Classifications

CA1305802

rs_190778135

3 SubmittersRCV000286931 RCV000376768 RCV000340481 RCV000280777 RCV002059408 RCV004537634

NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)

SNV
Germline

Chr1:196741922

Conflicting classifications of pathogenicity

CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Basal laminar drusen
Age related macular degeneration 4
Condition: not provided
Retinal dystrophy
Atypical hemolytic-uremic syndrome
not specified

Criteria Provided
Conflicting Classifications

CA1305806

rs_201816520

6 SubmittersRCV000408202 RCV000307054 RCV000341877 RCV000347912 RCV001850510 RCV004816522 RCV002294236 RCV004701396

NM_000186.4(CFH):c.1736T>C (p.Val579Ala)

SNV
Germline

Chr1:196725160

Conflicting classifications of pathogenicity

Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Basal laminar drusen
Condition: not provided
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Factor H deficiency

Criteria Provided
Conflicting Classifications

CA1305475

rs_201411537

3 SubmittersRCV000317574 RCV000372197 RCV000336971 RCV000282381 RCV001850509 RCV005008265

NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter)

SNV
Germline

Chr1:196747260

Likely pathogenic

Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Factor H deficiency

Criteria Provided
Single Submitter

CA1305996

rs_121913051

1 SubmittersRCV005003620

NM_000186.4(CFH):c.3133+4C>G

SNV
Germline

Chr1:196742055

Conflicting classifications of pathogenicity

Condition: 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
CFH-related disorder
Optic atrophy
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Basal laminar drusen
not specified

Criteria Provided
Conflicting Classifications

CA1305828

rs_374729595

8 SubmittersRCV000735108 RCV001101089 RCV001101088 RCV001097347 RCV001097348 RCV004535884 RCV004817965 RCV005004396 RCV004526766

NM_000186.4(CFH):c.1126C>T (p.Gln376Ter)

SNV
Germline

Chr1:196689581

Pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

No Assertion Criteria Provided

CA343980186

rs_1573026975

1 SubmittersRCV000786952

NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser)

SNV
Germline

Chr1:196747159

Likely pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

No Assertion Criteria Provided

CA343987358

rs_1573087200

1 SubmittersRCV000787023

NM_003647.3(DGKE):c.942C>G (p.Asn314Lys)

SNV
Germline

Chr17:56848749

Likely pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Single Submitter

CA399927850

rs_749415630

1 SubmittersRCV001201397

NM_000186.4(CFH):c.3134-2A>G

SNV
Germline

Chr1:196743450

Pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

No Assertion Criteria Provided

CA343982709

rs_1300996807

1 SubmittersRCV001029760

NM_000186.4(CFH):c.7C>G (p.Leu3Val)

SNV
Germline

Chr1:196652124

Conflicting classifications of pathogenicity

Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Basal laminar drusen
Condition: not provided
Factor H deficiency
Factor H deficiency
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4

Criteria Provided
Conflicting Classifications

CA1304907

rs_139254423

6 SubmittersRCV001100100 RCV001100102 RCV001100099 RCV001100101 RCV001856358 RCV003449555 RCV005005043

NM_000186.4(CFH):c.16A>G (p.Lys6Glu)

SNV
Germline

Chr1:196652133

Conflicting classifications of pathogenicity

Basal laminar drusen
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Condition: not provided
Age related macular degeneration 4
Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA1304909

rs_749875053

2 SubmittersRCV001100104 RCV001100103 RCV002554957 RCV001102092 RCV001102093

NM_000186.4(CFH):c.172T>G (p.Ser58Ala)

SNV
Germline

Chr1:196673091

Conflicting classifications of pathogenicity

Age related macular degeneration 4
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
not specified
Condition: not provided
Factor H deficiency
Age related macular degeneration 4
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA1304959

rs_141336681

7 SubmittersRCV001096686 RCV001096683 RCV001096685 RCV001096684 RCV004782648 RCV001724249 RCV005012551

NM_000186.4(CFH):c.879G>A (p.Gln293=)

SNV
Germline

Chr1:196685152

Conflicting classifications of pathogenicity

CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Basal laminar drusen
Age related macular degeneration 4

Criteria Provided
Conflicting Classifications

CA1305189

rs_769615121

1 SubmittersRCV001098525 RCV001098526 RCV001100288 RCV001100289

NM_000186.4(CFH):c.907C>T (p.Arg303Trp)

SNV
Germline

Chr1:196685180

Conflicting classifications of pathogenicity

CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Age related macular degeneration 4
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305197

rs_142937931

2 SubmittersRCV001100290 RCV001100291 RCV001100292 RCV001100293 RCV001856363

NM_000186.4(CFH):c.1418C>T (p.Ala473Val)

SNV
Germline

Chr1:196713816

Conflicting classifications of pathogenicity

CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Basal laminar drusen
Age related macular degeneration 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305391

rs_371053403

3 SubmittersRCV001098618 RCV001098619 RCV001098620 RCV001098621 RCV001856332

NM_000186.4(CFH):c.2424A>G (p.Ile808Met)

SNV
Germline

Chr1:196736834

Conflicting classifications of pathogenicity

Basal laminar drusen
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Factor H deficiency
Age related macular degeneration 4
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305665

rs_752302466

4 SubmittersRCV001098821 RCV001098818 RCV001098819 RCV001098820 RCV005012552 RCV002554929

NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)

SNV
Germline

Chr1:196740780

Conflicting classifications of pathogenicity

Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Age related macular degeneration 4
Inborn genetic diseases
Basal laminar drusen
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305781

rs_149938052

4 SubmittersRCV001097264 RCV001097265 RCV001100998 RCV001100999 RCV005540274 RCV005005039 RCV005093470

NM_000186.4(CFH):c.3156C>T (p.Pro1052=)

SNV
Germline

Chr1:196743474

Conflicting classifications of pathogenicity

CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Basal laminar drusen

Criteria Provided
Conflicting Classifications

CA1305861

rs_764539113

1 SubmittersRCV001099196 RCV001099197 RCV001101195 RCV001101194

NM_000186.4(CFH):c.245-15T>C

SNV
Germline

Chr1:196673842

Conflicting classifications of pathogenicity

Hemolytic uremic syndrome, atypical, susceptibility to, 1
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Basal laminar drusen
Age related macular degeneration 4
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1304994

rs_200079172

3 SubmittersRCV001098416 RCV001098417 RCV001098418 RCV001098419 RCV002067750 RCV005236599

NM_000186.4(CFH):c.2596+8G>T

SNV
Germline

Chr1:196737014

Conflicting classifications of pathogenicity

Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Condition: not provided
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Age related macular degeneration 4

Criteria Provided
Conflicting Classifications

CA1305687

rs_375176505

2 SubmittersRCV001100634 RCV001100635 RCV002069691 RCV001100907 RCV001100908

NM_000186.4(CFH):c.2956+13G>A

SNV
Germline

Chr1:196740805

Conflicting classifications of pathogenicity

CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305785

rs_572034879

2 SubmittersRCV001097266 RCV001097267 RCV001097269 RCV001097268 RCV002069639

NM_000186.4(CFH):c.3134-5T>C

SNV
Germline

Chr1:196743447

Conflicting classifications of pathogenicity

Basal laminar drusen
Age related macular degeneration 4
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Condition: not provided
Atypical hemolytic-uremic syndrome
not specified

Criteria Provided
Conflicting Classifications

CA1305851

rs_513699

7 SubmittersRCV001099100 RCV001099101 RCV001099102 RCV001099103 RCV001573411 RCV002294440 RCV001529004

NM_000186.4(CFH):c.157C>T (p.Arg53Cys)

SNV
Germline

Chr1:196673076

Pathogenic/Likely pathogenic

Condition: not provided
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Factor H deficiency
Basal laminar drusen
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4

Criteria Provided
Multiple Submitters
No Conflicts

CA1304957

rs_757785149

4 SubmittersRCV001379747 RCV002256753 RCV003450049 RCV002488198

NM_000186.4(CFH):c.427+14G>C

SNV
Germline

Chr1:196676079

Conflicting classifications of pathogenicity

Condition: not provided
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Factor H deficiency

Criteria Provided
Conflicting Classifications

CA35813074

rs_755841584

2 SubmittersRCV001470472 RCV005005249

NM_000186.4(CFH):c.672G>T (p.Lys224Asn)

SNV
Germline

Chr1:196679675

Conflicting classifications of pathogenicity

Hemolytic uremic syndrome, atypical, susceptibility to, 1
Factor H deficiency

Criteria Provided
Conflicting Classifications

CA343977768

rs_1408473510

2 SubmittersRCV001808098 RCV003989715

NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys)

SNV
Unknown

Chr1:196747233

Likely pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Single Submitter

CA343988072

rs_1573087364

1 SubmittersRCV001842261

NM_000186.4(CFH):c.213G>A (p.Trp71Ter)

SNV
Germline

Chr1:196673132

Pathogenic/Likely pathogenic

Condition: not provided
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Factor H deficiency
Factor H deficiency
CFH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA343996354

rs_1210674261

5 SubmittersRCV001938585 RCV002484526 RCV003452163 RCV004529049

NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)

SNV
Germline

Chr1:196725297

Pathogenic/Likely pathogenic

Condition: not provided
Factor H deficiency
Basal laminar drusen
Age related macular degeneration 4
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1305497

rs_150694809

4 SubmittersRCV002014734 RCV003453840 RCV002507687

NM_000186.4(CFH):c.3045T>C (p.Thr1015=)

SNV
Germline

Chr1:196741963

Conflicting classifications of pathogenicity

Condition: not provided
Kidney disorder
Age related macular degeneration 4
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Factor H deficiency

Criteria Provided
Conflicting Classifications

CA1305812

rs_147864267

3 SubmittersRCV002117060 RCV002294509 RCV002494209

NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)

SNV
Germline

Chr1:196747182

Conflicting classifications of pathogenicity

Condition: not provided
Familial Atypical Hemolytic-Uremic Syndrome
Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA343987618

rs_2149118712

3 SubmittersRCV002261585 RCV003324010 RCV004558911

NM_000186.4(CFH):c.791-20T>G

SNV
Germline

Chr1:196685044

Conflicting classifications of pathogenicity

Factor H deficiency
Basal laminar drusen
Age related macular degeneration 4
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305171

rs_377743610

2 SubmittersRCV005008660 RCV002621587

NM_000186.4(CFH):c.2236+1G>C

SNV
Germline

Chr1:196726941

Likely pathogenic

Condition: not provided
CFH-related disorder
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Factor H deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA343990064

rs_1274067311

3 SubmittersRCV002642643 RCV004782950 RCV005002859

NM_000186.4(CFH):c.1986A>G (p.Arg662=)

SNV
Germline

Chr1:196726582

Conflicting classifications of pathogenicity

Condition: not provided
Age related macular degeneration 4
Basal laminar drusen
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA35860689

rs_950210342

2 SubmittersRCV002726989 RCV005008720

NM_000186.4(CFH):c.1735G>A (p.Val579Ile)

SNV
Germline

Chr1:196725159

Conflicting classifications of pathogenicity

Condition: not provided
Age related macular degeneration 4
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Basal laminar drusen
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1305473

rs_532344479

3 SubmittersRCV002805572 RCV005002884 RCV004064741

NM_000186.4(CFH):c.2575C>T (p.Gln859Ter)

SNV
Germline

Chr1:196736985

Pathogenic/Likely pathogenic

Basal laminar drusen
Age related macular degeneration 4
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343993151

rs_1669420365

2 SubmittersRCV005002893 RCV002880562

NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)

SNV
Germline

Chr1:196741893

Likely pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Single Submitter

CA343981362

rs_2529544865

1 SubmittersRCV003239331

NM_000186.4(CFH):c.558A>T (p.Gly186=)

SNV
Germline

Chr1:196677606

Conflicting classifications of pathogenicity

Condition: not provided
Factor H deficiency
Age related macular degeneration 4
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Basal laminar drusen

Criteria Provided
Conflicting Classifications

CA1305089

rs_752610166

2 SubmittersRCV003739945 RCV005013148

NM_000186.4(CFH):c.1520-2A>G

SNV
Germline

Chr1:196715591

Likely pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Single Submitter

CA343982672

rs_2529474366

1 SubmittersRCV003991313

NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)

SNV
Germline

Chr1:196737487

Likely pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Single Submitter

CA343993551

rs_2529534149

1 SubmittersRCV003991386

NM_000186.4(CFH):c.245-1G>C

SNV
Germline

Chr1:196673856

Pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Single Submitter

CA343976129

rs_1311814991

1 SubmittersRCV004545929

NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)

SNV
Germline

Chr1:196715763

Conflicting classifications of pathogenicity

Hemolytic uremic syndrome, atypical, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343983771

rs_1668856710

2 SubmittersRCV004555391 RCV004791692

NM_000186.4(CFH):c.1154G>T (p.Cys385Phe)

SNV
Germline

Chr1:196689609

Likely pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Single Submitter

CA343980245

rs_2529386595

1 SubmittersRCV004555460

NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)

SNV
Germline

Chr1:196747261

Likely pathogenic

Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Single Submitter

1 SubmittersRCV004788334

NM_000186.4(CFH):c.1673G>A (p.Trp558Ter)

SNV
Germline

Chr1:196715746

Likely pathogenic

Condition: not provided
Age related macular degeneration 4
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Basal laminar drusen

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004792249 RCV005006566

NM_000186.4(CFH):c.39G>A (p.Trp13Ter)

SNV
Germline

Chr1:196652156

Likely pathogenic

Factor H deficiency
Age related macular degeneration 4
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005004894

NM_000186.4(CFH):c.336T>A (p.Tyr112Ter)

SNV
Germline

Chr1:196673948