| - GRCh37:
- Chr6:31918557
- GRCh38:
- Chr6:31950780
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Age related macular degeneration 14,
Complement factor b deficiency | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31919578
- GRCh38:
- Chr6:31951801
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Complement factor b deficiency
| Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31915143
- GRCh38:
- Chr6:31947366
| CFB | P168L | Atypical hemolytic-uremic syndrome with B factor anomaly, not provided | Uncertain significance
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31915305
- GRCh38:
- Chr6:31947528
| CFB | | Atypical hemolytic-uremic syndrome with B factor anomaly, Age related macular degeneration 14, Complement factor b deficiency,
not provided | Conflicting interpretations of pathogenicity
(Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31911430
- GRCh38:
- Chr6:31943653
| C2, CFB | K312R, K526R, K394R, K280R, K497R | Macular degeneration, Age related macular degeneration 14, not provided,
Complement component 2 deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31918704
- GRCh38:
- Chr6:31950927
| CFB | T613I | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Conflicting interpretations of pathogenicity
(Feb 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31918669
- GRCh38:
- Chr6:31950892
| CFB | | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31914819
- GRCh38:
- Chr6:31947042
| CFB | G112R | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31918533
- GRCh38:
- Chr6:31950756
| CFB | Y588H | Atypical hemolytic-uremic syndrome with B factor anomaly, not provided, Macular degeneration
| Uncertain significance
(Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31916170
- GRCh38:
- Chr6:31948393
| CFB | K306R | Atypical hemolytic-uremic syndrome with B factor anomaly, not provided, Macular degeneration
| Uncertain significance
(Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31915745
- GRCh38:
- Chr6:31947968
| CFB | V262I | Atypical hemolytic-uremic syndrome with B factor anomaly, not provided, Macular degeneration
| Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31914359
- GRCh38:
- Chr6:31946582
| CFB | T92S | Inborn genetic diseases, not provided, Macular degeneration,
Atypical hemolytic-uremic syndrome with B factor anomaly | Conflicting interpretations of pathogenicity
(Feb 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31918104
- GRCh38:
- Chr6:31950327
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Benign/Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31913800
- GRCh38:
- Chr6:31946023
| CFB | | Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31919230
- GRCh38:
- Chr6:31951453
| CFB | A690V | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31919031
- GRCh38:
- Chr6:31951254
| CFB | | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31919018
- GRCh38:
- Chr6:31951241
| CFB | D651E | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31917216
- GRCh38:
- Chr6:31949439
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Conflicting interpretations of pathogenicity
(Feb 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31914203
- GRCh38:
- Chr6:31946426
| CFB | E40K | Atypical hemolytic-uremic syndrome with B factor anomaly | Uncertain significance
(Oct 4, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr6:31917300
- GRCh38:
- Chr6:31949523
| CFB | M458I | Age related macular degeneration 14, Complement factor b deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly,
not provided, Atypical hemolytic-uremic syndrome | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31914912
- GRCh38:
- Chr6:31947135
| CFB | R143C | not provided | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31917068
- GRCh38:
- Chr6:31949291
| CFB | R406Q | Atypical hemolytic-uremic syndrome with B factor anomaly | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr6:31918926
- GRCh38:
- Chr6:31951149
| CFB | E621K | not provided | Uncertain significance
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31919854
- GRCh38:
- Chr6:31952077
| CFB | | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31919830
- GRCh38:
- Chr6:31952053
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Benign
(Jun 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31919823
- GRCh38:
- Chr6:31952046
| CFB | | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31919342
- GRCh38:
- Chr6:31951565
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Complement factor b deficiency,
Age related macular degeneration 14, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Benign/Likely benign
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31918954
- GRCh38:
- Chr6:31951177
| CFB | A630V | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31918558
- GRCh38:
- Chr6:31950781
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31918464
- GRCh38:
- Chr6:31950687
| CFB | K565E | not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with B factor anomaly,
Macular degeneration | Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31918149
- GRCh38:
- Chr6:31950372
| CFB | | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31918080
- GRCh38:
- Chr6:31950303
| C2, CFB | | not specified, Complement component 2 deficiency, not provided,
Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31918080
- GRCh38:
- Chr6:31950303
| CFB | H508Q | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31917333
- GRCh38:
- Chr6:31949556
| CFB | I469M | Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly, not specified,
not provided | Conflicting interpretations of pathogenicity
(May 18, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31917291
- GRCh38:
- Chr6:31949514
| C2, CFB | | Atypical hemolytic-uremic syndrome with B factor anomaly, Complement component 2 deficiency, Focal segmental glomerulosclerosis,
Macular degeneration, not provided | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31917078
- GRCh38:
- Chr6:31949301
| CFB | | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31916713
- GRCh38:
- Chr6:31948936
| C2, CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration,
Complement component 2 deficiency, Atypical hemolytic-uremic syndrome | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31916707
- GRCh38:
- Chr6:31948930
| C2, CFB | | not specified, Complement component 2 deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly,
Complement factor b deficiency, Age related macular degeneration 14, not provided,
Atypical hemolytic-uremic syndrome, Kidney disorder, Atypical hemolytic-uremic syndrome with B factor anomaly,
Macular degeneration | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31916597
- GRCh38:
- Chr6:31948820
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Conflicting interpretations of pathogenicity
(Dec 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31916597
- GRCh38:
- Chr6:31948820
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31915819
- GRCh38:
- Chr6:31948042
| C2, CFB | | not specified, Complement component 2 deficiency, not provided,
Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31915614
- GRCh38:
- Chr6:31947837
| C2, CFB | G252S | Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome,
Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31915584
- GRCh38:
- Chr6:31947807
| CFB | I242L | not specified, Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly,
not provided | Conflicting interpretations of pathogenicity
(Feb 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31915580
- GRCh38:
- Chr6:31947803
| CFB | | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31915532
- GRCh38:
- Chr6:31947755
| C2, CFB | | Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome with B factor anomaly,
Kidney disorder, Macular degeneration | Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31915296
- GRCh38:
- Chr6:31947519
| CFB | Q219L | Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:31915244
- GRCh38:
- Chr6:31947467
| CFB | R202W | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Conflicting interpretations of pathogenicity
(Aug 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31915240
- GRCh38:
- Chr6:31947463
| C2, CFB | | Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome,
Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31915144
- GRCh38:
- Chr6:31947367
| C2, CFB | | Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, not provided,
Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31914935
- GRCh38:
- Chr6:31947158
| C2, CFB | | Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome with B factor anomaly,
Complement factor b deficiency, Macular degeneration | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31914890
- GRCh38:
- Chr6:31947113
| C2, CFB | | Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, not provided,
Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31914806
- GRCh38:
- Chr6:31947029
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Conflicting interpretations of pathogenicity
(Aug 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31914376
- GRCh38:
- Chr6:31946599
| CFB | | not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Conflicting interpretations of pathogenicity
(Jul 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31914306
- GRCh38:
- Chr6:31946529
| C2, CFB | R74H | Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, not provided,
Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Conflicting interpretations of pathogenicity
(Sep 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:31913996
- GRCh38:
- Chr6:31946219
| CFB | | Atypical hemolytic-uremic syndrome with B factor anomaly, Complement factor b deficiency, Age related macular degeneration 14,
Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration | Uncertain significance
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31918468
- GRCh38:
- Chr6:31950691
| CFB | E566A | Complement factor b deficiency, Kidney disorder, Complement component 2 deficiency,
Atypical hemolytic-uremic syndrome with B factor anomaly, not provided, Macular degeneration
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31918154
- GRCh38:
- Chr6:31950377
| C2, CFB | K533R | Complement factor b deficiency, Complement factor b deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly,
Age related macular degeneration 14, not provided, Atypical hemolytic-uremic syndrome,
not specified, Complement component 2 deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly,
Macular degeneration | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31916220
- GRCh38:
- Chr6:31948443
| CFB | K323E | Atypical hemolytic-uremic syndrome with B factor anomaly | risk factor
(Jan 2, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr6:31915819
- GRCh38:
- Chr6:31948042
| CFB | F286L | Atypical hemolytic-uremic syndrome with B factor anomaly | risk factor
(Jan 2, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr6:31914024
- GRCh38:
- Chr6:31946247
| C2, CFB | L9H | Complement factor b deficiency, Age related macular degeneration 14, Atypical hemolytic-uremic syndrome with B factor anomaly,
not specified, not provided, Atypical hemolytic-uremic syndrome,
Complement component 2 deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31914179
- GRCh38:
- Chr6:31946402
| C2, CFB | R32W | Focal segmental glomerulosclerosis, Macular degeneration, Complement component 2 deficiency,
Complement factor b deficiency, Age related macular degeneration 14, Atypical hemolytic-uremic syndrome with B factor anomaly,
Atypical hemolytic-uremic syndrome with B factor anomaly, not provided, Atypical hemolytic-uremic syndrome
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:31914180
- GRCh38:
- Chr6:31946403
| C2, CFB | R32Q | Age related macular degeneration 14, Complement component 2 deficiency, not provided,
not specified, Atypical hemolytic-uremic syndrome, Complement component 2 deficiency,
Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration, Focal segmental glomerulosclerosis
| Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |