| - GRCh37:
- Chr1:196712754
- GRCh38:
- Chr1:196743624
| CFH | C1102W | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:196694373
- GRCh38:
- Chr1:196725243
| CFH | N607fs | Factor H deficiency | Pathogenic
(Nov 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:196712621-196712630
- GRCh38:
- Chr1:196743491-196743500
| CFH | | Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Likely pathogenic
(Jan 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:196658616
- GRCh38:
- Chr1:196689486
| CFH | Y344C | Factor H deficiency | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:196712608
- GRCh38:
- Chr1:196743478
| CFH | V1054I | not provided, Basal laminar drusen, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency | Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196642092
- GRCh38:
- Chr1:196672962
| CFH | | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Likely benign
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196696088
- GRCh38:
- Chr1:196726958
| CFH | | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Likely benign
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196710990
- GRCh38:
- Chr1:196741860
| CFH | | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Likely benign
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196654309
- GRCh38:
- Chr1:196685179
| CFH | | not provided, Basal laminar drusen, Factor H deficiency,
Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Likely benign
(Oct 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196643107
- GRCh38:
- Chr1:196673977
| CFH | | Basal laminar drusen, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Age related macular degeneration 4, not provided | Benign/Likely benign
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196695798
- GRCh38:
- Chr1:196726668
| CFH | | Basal laminar drusen, Age related macular degeneration 4, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196709787
- GRCh38:
- Chr1:196740657
| CFH | V941F | Basal laminar drusen, Age related macular degeneration 4, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196642970
- GRCh38:
- Chr1:196673840
| CFH | | not provided, Basal laminar drusen, Age related macular degeneration 4,
Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Benign/Likely benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196711093
- GRCh38:
- Chr1:196741963
| CFH | | Kidney disorder, Basal laminar drusen, Factor H deficiency,
Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided
| Conflicting interpretations of pathogenicity
(Jul 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:196654210
- GRCh38:
- Chr1:196685080
| CFH | | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Likely benign
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196709912
- GRCh38:
- Chr1:196740782
| CFH | | not provided, Basal laminar drusen, Age related macular degeneration 4,
Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Atypical hemolytic-uremic syndrome
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196642969-196642970
- GRCh38:
- Chr1:196673839-196673840
| CFH | | not provided, Basal laminar drusen, Factor H deficiency,
Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196643060
- GRCh38:
- Chr1:196673930
| CFH | | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Likely benign
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196709834
- GRCh38:
- Chr1:196740704
| CFH | | not provided, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4 | Likely benign
(Mar 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196695724
- GRCh38:
- Chr1:196726594
| CFH | K666N | not provided, Age related macular degeneration 4, Factor H deficiency,
Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Uncertain significance
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196683039
- GRCh38:
- Chr1:196713909
| CFH | T504M | not provided, Inborn genetic diseases, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen
| Uncertain significance
(Mar 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196695780
- GRCh38:
- Chr1:196726650
| CFH | I685T | not provided, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Age related macular degeneration 4, Basal laminar drusen | Uncertain significance
(Dec 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196694427
- GRCh38:
- Chr1:196725297
| CFH | E625* | not provided, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Factor H deficiency, Age related macular degeneration 4 | Pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196695773
- GRCh38:
- Chr1:196726643
| CFH | V683M | Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Basal laminar drusen,
Age related macular degeneration 4, not provided | Uncertain significance
(May 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196706028
- GRCh38:
- Chr1:196736898
| CFH | R830W | Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Basal laminar drusen,
Age related macular degeneration 4, not provided | Uncertain significance
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196714994
- GRCh38:
- Chr1:196745864
| CFH | I1120F | not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency,
Age related macular degeneration 4, Basal laminar drusen | Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196642262
- GRCh38:
- Chr1:196673132
| CFH | W71* | not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency,
Age related macular degeneration 4, Basal laminar drusen | Pathogenic/Likely pathogenic
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196711178
- GRCh38:
- Chr1:196742048
| CFH | R1044G | not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency,
Age related macular degeneration 4, Basal laminar drusen | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196694248
- GRCh38:
- Chr1:196725118
| CFH | | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196646654
- GRCh38:
- Chr1:196677524
| CFH | S159N | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Uncertain significance
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196643074
- GRCh38:
- Chr1:196673944
| CFH | V111E | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196695648
- GRCh38:
- Chr1:196726518
| CFH | V641A | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196654292
- GRCh38:
- Chr1:196685162
| CFH | G297S | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196696029
- GRCh38:
- Chr1:196726899
| CFH | T732M | Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen,
Age related macular degeneration 4, not provided | Uncertain significance
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196705956
- GRCh38:
- Chr1:196736826
| CFH | A806S | Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen,
Age related macular degeneration 4, not provided | Uncertain significance
(May 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196683002
- GRCh38:
- Chr1:196713872
| CFH | I492V | Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen,
Age related macular degeneration 4, not provided | Uncertain significance
(Mar 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196705996
- GRCh38:
- Chr1:196736866
| CFH | N819S | Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency,
Age related macular degeneration 4, not provided | Uncertain significance
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196646675
- GRCh38:
- Chr1:196677545
| CFH | R166L | Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Factor H deficiency, not provided | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196646704
- GRCh38:
- Chr1:196677574
| CFH | F176L | Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Factor H deficiency, not provided | Uncertain significance
(Dec 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196642149
- GRCh38:
- Chr1:196673019
| CFH | T34S | not provided, Age related macular degeneration 4, Basal laminar drusen,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency | Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196646743
- GRCh38:
- Chr1:196677613
| CFH | E189K | Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Factor H deficiency, not provided | Uncertain significance
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196694298
- GRCh38:
- Chr1:196725168
| CFH | R582C | not provided, Age related macular degeneration 4, Basal laminar drusen,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency | Uncertain significance
(Dec 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196695906
- GRCh38:
- Chr1:196726776
| CFH | C691S | Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Basal laminar drusen, not provided | Uncertain significance
(Oct 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196712598
- GRCh38:
- Chr1:196743468
| CFH | | Kidney disorder, Age related macular degeneration 4, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, not specified
| Benign/Likely benign
(Dec 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196658763
- GRCh38:
- Chr1:196689633
| CFH | | not provided, Age related macular degeneration 4, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196682885
- GRCh38:
- Chr1:196713755
| CFH | I453L | Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Basal laminar drusen, Atypical hemolytic-uremic syndrome with I factor anomaly | Uncertain significance
(Nov 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196642072
- GRCh38:
- Chr1:196672942
| CFH | | Age related macular degeneration 4, not provided, Basal laminar drusen,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency | Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196716295
- GRCh38:
- Chr1:196747165
| CFH | W1183L | Factor H deficiency | Likely pathogenic
(Feb 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:196642969-196642970
- GRCh38:
- Chr1:196673839-196673840
| CFH | | not provided, Atypical hemolytic-uremic syndrome, Age related macular degeneration 4,
Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency,
not specified | Benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196642171
- GRCh38:
- Chr1:196673041
| CFH | T41I | Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4,
Basal laminar drusen, not provided | Uncertain significance
(Jan 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196642970
- GRCh38:
- Chr1:196673840
| CFH | | not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4,
Factor H deficiency, Basal laminar drusen | Likely benign
(Feb 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196654252
- GRCh38:
- Chr1:196685122
| CFH | | not provided, Basal laminar drusen, Factor H deficiency,
Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Likely benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196654385
- GRCh38:
- Chr1:196685255
| CFH | | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Likely benign
(Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196695661
- GRCh38:
- Chr1:196726531
| CFH | | not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4,
Factor H deficiency, Basal laminar drusen | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196642206
- GRCh38:
- Chr1:196673076
| CFH | R53C | not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency, Age related macular degeneration 4
| Pathogenic/Likely pathogenic
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196711127
- GRCh38:
- Chr1:196741997
| CFH | A1027P | Basal laminar drusen, Factor H deficiency, Age related macular degeneration 4,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided | Uncertain significance
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196646675
- GRCh38:
- Chr1:196677545
| CFH | R166Q | not provided, Basal laminar drusen, Basal laminar drusen,
Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4
| Uncertain significance
(Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196712617
- GRCh38:
- Chr1:196743487
| CFH | A1057T | not provided, Factor H deficiency | Uncertain significance
(Sep 15, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196695985
- GRCh38:
- Chr1:196726855
| CFH | F717L | Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Age related macular degeneration 4,
Factor H deficiency, not provided | Uncertain significance
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196648780
- GRCh38:
- Chr1:196679650
| CFH | I216T | not provided, Basal laminar drusen, Factor H deficiency,
Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Uncertain significance
(Aug 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196646650
- GRCh38:
- Chr1:196677520
| CFH | V158I | not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen,
Factor H deficiency, Age related macular degeneration 4 | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196659231
- GRCh38:
- Chr1:196690101
| CFH | Q400K | Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Factor H deficiency,
Age related macular degeneration 4, Factor H deficiency, not provided
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196694379
- GRCh38:
- Chr1:196725249
| CFH | V609I | Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Factor H deficiency,
Basal laminar drusen, not provided | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196684815
- GRCh38:
- Chr1:196715685
| CFH | D538H | not provided, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Factor H deficiency, Age related macular degeneration 4 | Uncertain significance
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196694253
- GRCh38:
- Chr1:196725123
| CFH | R567G | Basal laminar drusen, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Age related macular degeneration 4 | Uncertain significance
(Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:196714954
- GRCh38:
- Chr1:196745824
| CFH | | Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Factor H deficiency, not provided | Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196696080
- GRCh38:
- Chr1:196726950
| CFH | | Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Factor H deficiency, not provided | Likely benign
(Apr 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196642979
- GRCh38:
- Chr1:196673849
| CFH | | Basal laminar drusen, Age related macular degeneration 4, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Factor H deficiency, not provided | Likely benign
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196706001
- GRCh38:
- Chr1:196736871
| CFH | H821Y | not provided, Age related macular degeneration 4, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen | Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196646659
- GRCh38:
- Chr1:196677529
| CFH | A161S | Hemolytic uremic syndrome, atypical, susceptibility to, 1, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Basal laminar drusen,
Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Basal laminar drusen, not provided, Age related macular degeneration 4
| Uncertain significance
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196706057
- GRCh38:
- Chr1:196736927
| CFH | C839* | not provided, Factor H deficiency, Chronic kidney disease
| Conflicting interpretations of pathogenicity
(May 28, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:196711076
- GRCh38:
- Chr1:196741946
| CFH | A1010T | Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Basal laminar drusen, not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Basal laminar drusen, Age related macular degeneration 4
| Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196712655
- GRCh38:
- Chr1:196743525
| CFH | | not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen,
Factor H deficiency, Age related macular degeneration 4, Basal laminar drusen,
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4
| Benign/Likely benign
(May 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196712626
- GRCh38:
- Chr1:196743496
| CFH | V1060L | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4, Basal laminar drusen,
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Benign/Likely benign
(Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196712620
- GRCh38:
- Chr1:196743490
| CFH | Y1058H | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4, Basal laminar drusen,
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Likely benign
(Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196712575
- GRCh38:
- Chr1:196743445
| CFH | | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Basal laminar drusen, Age related macular degeneration 4,
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Uncertain significance
(Nov 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196711189
- GRCh38:
- Chr1:196742059
| CFH | | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Atypical hemolytic-uremic syndrome, not provided,
Age related macular degeneration 4, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II,
Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196709774
- GRCh38:
- Chr1:196740644
| CFH | E936D | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided, Age related macular degeneration 4,
Basal laminar drusen, Factor H deficiency, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II,
Focal segmental glomerulosclerosis, Hemolytic uremic syndrome, atypical, susceptibility to, 1 ...see more | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196706645
- GRCh38:
- Chr1:196737515
| CFH | | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided, Basal laminar drusen,
Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1
| Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196706049
- GRCh38:
- Chr1:196736919
| CFH | V837I | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided, Age related macular degeneration 4,
Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
| Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196696078
- GRCh38:
- Chr1:196726948
| CFH | | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Atypical hemolytic-uremic syndrome, not provided,
Age related macular degeneration 4, Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II | Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196695742
- GRCh38:
- Chr1:196726612
| CFH | | not provided, Age related macular degeneration 4, Focal segmental glomerulosclerosis,
Factor H deficiency, Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II,
Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196695661
- GRCh38:
- Chr1:196726531
| CFH | | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided, Age related macular degeneration 4,
Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1
| Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196682947
- GRCh38:
- Chr1:196713817
| CFH | | Atypical hemolytic-uremic syndrome, not provided, Age related macular degeneration 4,
Basal laminar drusen, Factor H deficiency, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II,
Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196659237
- GRCh38:
- Chr1:196690107
| CFH | H402Y | not provided, Basal laminar drusen, Atypical hemolytic-uremic syndrome,
Factor H deficiency, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Age related macular degeneration 4 | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:196654324
- GRCh38:
- Chr1:196685194
| CFH | | Atypical hemolytic-uremic syndrome, not provided, Age related macular degeneration 4,
Basal laminar drusen, Factor H deficiency, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II,
Hemolytic uremic syndrome, atypical, susceptibility to, 1 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196646592
- GRCh38:
- Chr1:196677462
| CFH | | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided, Age related macular degeneration 4,
Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1
| Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196643101
- GRCh38:
- Chr1:196673971
| CFH | | Age related macular degeneration 4, Basal laminar drusen, Factor H deficiency,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, not provided, Age related macular degeneration 4,
Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1
| Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196716337
- GRCh38:
- Chr1:196747207
| CFH | V1197A | Age related macular degeneration 4, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Basal laminar drusen, not provided, Hemolytic uremic syndrome, atypical, susceptibility to, 1
| Pathogenic/Likely pathogenic
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196716375
- GRCh38:
- Chr1:196747245
| CFH | R1210C | not provided, Age related macular degeneration 4, Kidney disorder,
Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Basal laminar drusen, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4,
Factor H deficiency | Conflicting interpretations of pathogenicity
(Dec 29, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:196648801-196648803
- GRCh38:
- Chr1:196679671-196679673
| CFH | K224del | Factor H deficiency | Pathogenic
(Jul 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr1:196645148
- GRCh38:
- Chr1:196676018
| CFH | R127L | Factor H deficiency | Pathogenic
(Mar 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr1:196659324
- GRCh38:
- Chr1:196690194
| CFH | C431S | Factor H deficiency | Pathogenic
(Mar 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr1:196642233
- GRCh38:
- Chr1:196673103
| CFH | V62I | not provided, Age related macular degeneration 4, Basal laminar drusen,
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Factor H deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1,
Focal segmental glomerulosclerosis | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196646743
- GRCh38:
- Chr1:196677613
| CFH | E189* | Factor H deficiency | Pathogenic
(Apr 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr1:196716319
- GRCh38:
- Chr1:196747189
| CFH | S1191L | CFH-Related Disorders, not provided, Basal laminar drusen,
Hemolytic uremic syndrome, atypical, susceptibility to, 1, Age related macular degeneration 4, Factor H deficiency
| Pathogenic
(Apr 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:196709842
- GRCh38:
- Chr1:196740712
| CFH | C959Y | Factor H deficiency | Pathogenic
(Jun 11, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:196684809
- GRCh38:
- Chr1:196715679
| CFH | C536R | Factor H deficiency | Pathogenic
(Apr 23, 1999) | no assertion criteria provided |