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	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Atypical hemolytic-uremic syndrome	No Assertion Criteria Provided	CA257490	rs_121913051	2 SubmittersRCV000018008 RCV001328244
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)	SNV Germline	Chr1:196747189	Pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Age related macular degeneration 4 Factor H deficiency Factor H deficiency CFH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA341428	rs_460897	6 SubmittersRCV000018011 RCV001843942 RCV002496396 RCV003450644 RCV004528119
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	Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Basal laminar drusen Atypical hemolytic-uremic syndrome Condition: not provided Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Age related macular degeneration 4 Factor H deficiency Kidney disorder	Criteria Provided Conflicting Classifications	CA128563	rs_121913059	8 SubmittersRCV000018025 RCV000018026 RCV000022540 RCV001099303 RCV001099304 RCV001328126 RCV001508947 RCV001536004 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 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Age related macular degeneration 4 Factor H deficiency 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	7 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 Basal laminar drusen Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Condition: not provided Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA1305536	rs_143237092	4 SubmittersRCV000289073 RCV000309119 RCV000344087 RCV000403698 RCV001317993 RCV002294228
NM_000186.4(CFH):c.285T>C (p.Thr95=)	SNV Germline	Chr1:196673897	Conflicting classifications of pathogenicity	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Condition: not provided CFH-related disorder	Criteria Provided Conflicting Classifications	CA1305003	rs_148182625	6 SubmittersRCV000306968 RCV000315031 RCV000364080 RCV000395440 RCV000900050 RCV004543159
NM_000186.4(CFH):c.1204C>T (p.His402Tyr)	SNV Germline	Chr1:196690107	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 Factor H deficiency Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA1305284	rs_1061170	6 SubmittersRCV000296616 RCV000327040 RCV000349294 RCV000388493 RCV001521610 RCV001579193 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 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4	Criteria Provided Conflicting Classifications	CA1305907	rs_757045842	1 SubmittersRCV000303163 RCV000308000 RCV000361627 RCV000405879
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 Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Condition: not provided	Criteria Provided Conflicting Classifications	CA1305438	rs_147403664	5 SubmittersRCV000269675 RCV000310698 RCV000364256 RCV000365181 RCV001508934
NM_000186.4(CFH):c.2784C>A (p.Gly928=)	SNV Germline	Chr1:196740620	Conflicting classifications of pathogenicity	Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Condition: not provided	Criteria Provided Conflicting Classifications	CA1305752	rs_755926856	2 SubmittersRCV000301863 RCV000338500 RCV000342703 RCV000406782 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 not specified Condition: not provided Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA1305760	rs_149474608	9 SubmittersRCV000273876 RCV000308622 RCV000333684 RCV000367943 RCV000735110 RCV000972577 RCV002294234
NM_000186.4(CFH):c.770G>A (p.Arg257His)	SNV Germline	Chr1:196679773	Conflicting classifications of pathogenicity	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Age related macular degeneration 4 Condition: not provided Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications	CA1305141	rs_140107330	3 SubmittersRCV000297641 RCV000312490 RCV000336891 RCV000406363 RCV001859772 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	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Basal laminar drusen Age related macular degeneration 4 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided Atypical hemolytic-uremic syndrome CFH-related disorder Non-immunoglobulin-mediated membranoproliferative glomerulonephritis not specified	Criteria Provided Conflicting Classifications	CA1305764	rs_145975787	8 SubmittersRCV000260915 RCV000315933 RCV000388064 RCV000375168 RCV000835731 RCV002294235 RCV004537633 RCV001849179 RCV003987498
NM_000186.4(CFH):c.2957-7A>G	SNV Germline	Chr1:196741868	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 CFH-related disorder	Criteria Provided Conflicting Classifications	CA1305802	rs_190778135	3 SubmittersRCV000286931 RCV000280777 RCV000340481 RCV000376768 RCV002059408 RCV004537634
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)	SNV Germline	Chr1:196741922	Conflicting classifications of pathogenicity	Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Atypical hemolytic-uremic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1305806	rs_201816520	3 SubmittersRCV000307054 RCV000341877 RCV000347912 RCV000408202 RCV002294236 RCV001850510
NM_000186.4(CFH):c.1736T>C (p.Val579Ala)	SNV Germline	Chr1:196725160	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA1305475	rs_201411537	2 SubmittersRCV000282381 RCV000317574 RCV000336971 RCV000372197 RCV001850509
NM_000186.4(CFH):c.3133+4C>G	SNV Germline	Chr1:196742055	Conflicting classifications of pathogenicity	Condition: not provided Age related macular degeneration 4 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II not specified CFH-related disorder	Criteria Provided Conflicting Classifications		rs_374729595	6 SubmittersRCV000735108 RCV001097347 RCV001097348 RCV001101088 RCV001101089 RCV004526766 RCV004535884
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		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		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		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		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 Basal laminar drusen CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Condition: not provided Factor H deficiency	Criteria Provided Conflicting Classifications		rs_139254423	4 SubmittersRCV001100100 RCV001100102 RCV001100101 RCV001100099 RCV001856358 RCV003449555
NM_000186.4(CFH):c.16A>G (p.Lys6Glu)	SNV Germline	Chr1:196652133	Conflicting classifications of pathogenicity	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Basal laminar drusen Age related macular degeneration 4 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_749875053	2 SubmittersRCV001100103 RCV001100104 RCV001102092 RCV001102093 RCV002554957
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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_141336681	5 SubmittersRCV001096686 RCV001096683 RCV001096685 RCV001096684 RCV001724249
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		rs_769615121	1 SubmittersRCV001098525 RCV001098526 RCV001100288 RCV001100289
NM_000186.4(CFH):c.907C>T (p.Arg303Trp)	SNV Germline	Chr1:196685180	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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_142937931	2 SubmittersRCV001100292 RCV001100293 RCV001100290 RCV001100291 RCV001856363
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)	SNV Germline	Chr1:196713816	Conflicting classifications of pathogenicity	Age related macular degeneration 4 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Condition: not provided	Criteria Provided Conflicting Classifications		rs_371053403	3 SubmittersRCV001098621 RCV001098618 RCV001098619 RCV001098620 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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_752302466	2 SubmittersRCV001098821 RCV001098818 RCV001098819 RCV001098820 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	Criteria Provided Conflicting Classifications		rs_149938052	1 SubmittersRCV001097264 RCV001097265 RCV001100998 RCV001100999
NM_000186.4(CFH):c.3156C>T (p.Pro1052=)	SNV Germline	Chr1:196743474	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	Criteria Provided Conflicting Classifications		rs_764539113	1 SubmittersRCV001099197 RCV001099196 RCV001101194 RCV001101195
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	Criteria Provided Conflicting Classifications		rs_200079172	2 SubmittersRCV001098416 RCV001098417 RCV001098418 RCV001098419 RCV002067750
NM_000186.4(CFH):c.2596+8G>T	SNV Germline	Chr1:196737014	Conflicting classifications of pathogenicity	Hemolytic uremic syndrome, atypical, susceptibility to, 1 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Age related macular degeneration 4 Basal laminar drusen Condition: not provided	Criteria Provided Conflicting Classifications		rs_375176505	2 SubmittersRCV001100635 RCV001100907 RCV001100908 RCV001100634 RCV002069691
NM_000186.4(CFH):c.2956+13G>A	SNV Germline	Chr1:196740805	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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_572034879	2 SubmittersRCV001097268 RCV001097267 RCV001097269 RCV001097266 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 not specified Condition: not provided Atypical hemolytic-uremic syndrome	Criteria Provided Conflicting Classifications		rs_513699	6 SubmittersRCV001099100 RCV001099101 RCV001099102 RCV001099103 RCV001529004 RCV001573411 RCV002294440
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 Basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 Factor H deficiency Age related macular degeneration 4 Factor H deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_757785149	4 SubmittersRCV001379747 RCV002256753 RCV002488198 RCV003450049
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		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		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 Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Age related macular degeneration 4 Factor H deficiency CFH-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1210674261	4 SubmittersRCV001938585 RCV002484526 RCV003452163 RCV004529049
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)	SNV Germline	Chr1:196725297	Pathogenic/Likely pathogenic	Condition: not provided Basal laminar drusen Factor H deficiency Age related macular degeneration 4 Hemolytic uremic syndrome, atypical, susceptibility to, 1 Factor H deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_150694809	4 SubmittersRCV002014734 RCV002507687 RCV003453840
NM_000186.4(CFH):c.3045T>C (p.Thr1015=)	SNV Germline	Chr1:196741963	Conflicting classifications of pathogenicity	Condition: not provided Kidney disorder Factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Basal laminar drusen Age related macular degeneration 4	Criteria Provided Conflicting Classifications		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		rs_2149118712	3 SubmittersRCV002261585 RCV003324010 RCV004558911
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			1 SubmittersRCV003239331
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			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			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			1 SubmittersRCV004545929
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)	SNV Germline	Chr1:196715763	Likely pathogenic	Hemolytic uremic syndrome, atypical, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV004555391
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			1 SubmittersRCV004555460

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

SNV
Germline

Chr1:196747260

Pathogenic; risk factor

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

No Assertion Criteria Provided

CA257490

rs_121913051

2 SubmittersRCV000018008 RCV001328244

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

SNV
Germline

Chr1:196747189

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341428

rs_460897

6 SubmittersRCV000018011 RCV001843942 RCV002496396 RCV003450644 RCV004528119

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

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

Criteria Provided
Conflicting Classifications

CA128563

rs_121913059

8 SubmittersRCV000018025 RCV000018026 RCV000022540 RCV001099303 RCV001099304 RCV001328126 RCV001508947 RCV001536004 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
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Basal laminar drusen
Age related macular degeneration 4
Factor H deficiency
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

7 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
Basal laminar drusen
Age related macular degeneration 4
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Condition: not provided
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

CA1305536

rs_143237092

4 SubmittersRCV000289073 RCV000309119 RCV000344087 RCV000403698 RCV001317993 RCV002294228

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

SNV
Germline

Chr1:196673897

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1305003

rs_148182625

6 SubmittersRCV000306968 RCV000315031 RCV000364080 RCV000395440 RCV000900050 RCV004543159

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

SNV
Germline

Chr1:196690107

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
Factor H deficiency
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

CA1305284

rs_1061170

6 SubmittersRCV000296616 RCV000327040 RCV000349294 RCV000388493 RCV001521610 RCV001579193 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
Basal laminar drusen
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4

Criteria Provided
Conflicting Classifications

CA1305907

rs_757045842

1 SubmittersRCV000303163 RCV000308000 RCV000361627 RCV000405879

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
Age related macular degeneration 4
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305438

rs_147403664

5 SubmittersRCV000269675 RCV000310698 RCV000364256 RCV000365181 RCV001508934

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

SNV
Germline

Chr1:196740620

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1305752

rs_755926856

2 SubmittersRCV000301863 RCV000338500 RCV000342703 RCV000406782 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
not specified
Condition: not provided
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

CA1305760

rs_149474608

9 SubmittersRCV000273876 RCV000308622 RCV000333684 RCV000367943 RCV000735110 RCV000972577 RCV002294234

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

SNV
Germline

Chr1:196679773

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1305141

rs_140107330

3 SubmittersRCV000297641 RCV000312490 RCV000336891 RCV000406363 RCV001859772 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

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

Criteria Provided
Conflicting Classifications

CA1305764

rs_145975787

8 SubmittersRCV000260915 RCV000315933 RCV000388064 RCV000375168 RCV000835731 RCV002294235 RCV004537633 RCV001849179 RCV003987498

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

SNV
Germline

Chr1:196741868

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
CFH-related disorder

Criteria Provided
Conflicting Classifications

CA1305802

rs_190778135

3 SubmittersRCV000286931 RCV000280777 RCV000340481 RCV000376768 RCV002059408 RCV004537634

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

SNV
Germline

Chr1:196741922

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1305806

rs_201816520

3 SubmittersRCV000307054 RCV000341877 RCV000347912 RCV000408202 RCV002294236 RCV001850510

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

SNV
Germline

Chr1:196725160

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1305475

rs_201411537

2 SubmittersRCV000282381 RCV000317574 RCV000336971 RCV000372197 RCV001850509

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

SNV
Germline

Chr1:196742055

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374729595

6 SubmittersRCV000735108 RCV001097347 RCV001097348 RCV001101088 RCV001101089 RCV004526766 RCV004535884

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

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

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

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

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
Basal laminar drusen
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
Condition: not provided
Factor H deficiency

Criteria Provided
Conflicting Classifications

rs_139254423

4 SubmittersRCV001100100 RCV001100102 RCV001100101 RCV001100099 RCV001856358 RCV003449555

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

SNV
Germline

Chr1:196652133

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_749875053

2 SubmittersRCV001100103 RCV001100104 RCV001102092 RCV001102093 RCV002554957

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141336681

5 SubmittersRCV001096686 RCV001096683 RCV001096685 RCV001096684 RCV001724249

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

rs_769615121

1 SubmittersRCV001098525 RCV001098526 RCV001100288 RCV001100289

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

SNV
Germline

Chr1:196685180

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142937931

2 SubmittersRCV001100292 RCV001100293 RCV001100290 RCV001100291 RCV001856363

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

SNV
Germline

Chr1:196713816

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_371053403

3 SubmittersRCV001098621 RCV001098618 RCV001098619 RCV001098620 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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_752302466

2 SubmittersRCV001098821 RCV001098818 RCV001098819 RCV001098820 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

Criteria Provided
Conflicting Classifications

rs_149938052

1 SubmittersRCV001097264 RCV001097265 RCV001100998 RCV001100999

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

SNV
Germline

Chr1:196743474

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

Criteria Provided
Conflicting Classifications

rs_764539113

1 SubmittersRCV001099197 RCV001099196 RCV001101194 RCV001101195

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

Criteria Provided
Conflicting Classifications

rs_200079172

2 SubmittersRCV001098416 RCV001098417 RCV001098418 RCV001098419 RCV002067750

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

SNV
Germline

Chr1:196737014

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_375176505

2 SubmittersRCV001100635 RCV001100907 RCV001100908 RCV001100634 RCV002069691

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

SNV
Germline

Chr1:196740805

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_572034879

2 SubmittersRCV001097268 RCV001097267 RCV001097269 RCV001097266 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
not specified
Condition: not provided
Atypical hemolytic-uremic syndrome

Criteria Provided
Conflicting Classifications

rs_513699

6 SubmittersRCV001099100 RCV001099101 RCV001099102 RCV001099103 RCV001529004 RCV001573411 RCV002294440

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_757785149

4 SubmittersRCV001379747 RCV002256753 RCV002488198 RCV003450049

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

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

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
Factor H deficiency
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Age related macular degeneration 4
Factor H deficiency
CFH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1210674261

4 SubmittersRCV001938585 RCV002484526 RCV003452163 RCV004529049

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

SNV
Germline

Chr1:196725297

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_150694809

4 SubmittersRCV002014734 RCV002507687 RCV003453840

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

SNV
Germline

Chr1:196741963

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_2149118712

3 SubmittersRCV002261585 RCV003324010 RCV004558911

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