| - GRCh37:
- Chr19:6719415
- GRCh38:
- Chr19:6719404
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly | Likely pathogenic
(May 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6712412
- GRCh38:
- Chr19:6712401
| C3 | F375L | Atypical hemolytic-uremic syndrome with C3 anomaly | Uncertain significance
(Jul 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6692999
- GRCh38:
- Chr19:6692988
| C3 | L1109R | Atypical hemolytic-uremic syndrome with C3 anomaly | Uncertain significance
(Apr 1, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr19:6677938
- GRCh38:
- Chr19:6677927
| C3 | | not provided, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9 | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6678018
- GRCh38:
- Chr19:6678007
| C3 | G1623W | Complement component 3 deficiency, not provided, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9 | Uncertain significance
(Dec 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6694465
- GRCh38:
- Chr19:6694454
| C3 | G1044E | Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency,
not provided | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6713216
- GRCh38:
- Chr19:6713205
| C3 | | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
Atypical hemolytic-uremic syndrome, not provided | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6697650
- GRCh38:
- Chr19:6697639
| C3 | | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Likely benign
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6694605
- GRCh38:
- Chr19:6694594
| C3 | | Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Likely benign
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6690622
- GRCh38:
- Chr19:6690611
| C3 | | Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6679520
- GRCh38:
- Chr19:6679509
| C3 | | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
not provided | Likely benign
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6713228
- GRCh38:
- Chr19:6713217
| C3 | | Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6707932
- GRCh38:
- Chr19:6707921
| C3 | | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6679400
- GRCh38:
- Chr19:6679389
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9,
not provided | Likely benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6681945
- GRCh38:
- Chr19:6681934
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9,
not provided | Likely benign
(Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6679235
- GRCh38:
- Chr19:6679224
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency,
not provided | Likely benign
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6714097
- GRCh38:
- Chr19:6714086
| C3 | | Atypical hemolytic-uremic syndrome, not provided, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9, Complement component 3 deficiency | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6697812
- GRCh38:
- Chr19:6697801
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency,
not provided | Likely benign
(Mar 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6707863
- GRCh38:
- Chr19:6707852
| C3 | | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
not provided | Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6710686
- GRCh38:
- Chr19:6710675
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9,
not provided | Likely benign
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6710630
- GRCh38:
- Chr19:6710619
| C3 | | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
not provided | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6702463
- GRCh38:
- Chr19:6702452
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency,
not provided | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6718271
- GRCh38:
- Chr19:6718260
| C3 | | not provided, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
Complement component 3 deficiency | Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6684416
- GRCh38:
- Chr19:6684405
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9,
not provided | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6707866
- GRCh38:
- Chr19:6707855
| C3 | | not provided, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9 | Likely benign
(Mar 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6712591
- GRCh38:
- Chr19:6712580
| C3 | | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9,
not provided | Likely benign
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6710866
- GRCh38:
- Chr19:6710855
| C3 | | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9,
not provided | Likely benign
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6707470
- GRCh38:
- Chr19:6707459
| C3 | | not provided, not specified, Complement component 3 deficiency,
Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9 | Conflicting interpretations of pathogenicity
(Jul 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6678432
- GRCh38:
- Chr19:6678421
| C3 | | not provided, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
Complement component 3 deficiency | Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6719273
- GRCh38:
- Chr19:6719262
| C3 | | not provided, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9 | Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6694581
- GRCh38:
- Chr19:6694570
| C3 | | not provided, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9 | Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6710985
- GRCh38:
- Chr19:6710974
| C3 | | not provided, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
Age related macular degeneration 9 | Likely benign
(Jul 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6702588
- GRCh38:
- Chr19:6702577
| C3 | N750Y | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9,
not provided | Uncertain significance
(Apr 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6718408
- GRCh38:
- Chr19:6718397
| C3 | E95K | Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6713227
- GRCh38:
- Chr19:6713216
| C3 | V326M | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
not provided | Uncertain significance
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6685110
- GRCh38:
- Chr19:6685099
| C3 | | not provided, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9 | Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6718317-6718318
- GRCh38:
- Chr19:6718306-6718307
| C3 | L125fs | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9,
not provided | Pathogenic/Likely pathogenic
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6697483
- GRCh38:
- Chr19:6697472
| C3 | P890S | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9,
not provided | Uncertain significance
(May 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6713304
- GRCh38:
- Chr19:6713293
| C3 | V300A | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Uncertain significance
(Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6710650
- GRCh38:
- Chr19:6710639
| C3 | | Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6693083
- GRCh38:
- Chr19:6693072
| C3 | Y1081C | not provided, Complement component 3 deficiency, Age related macular degeneration 9,
Atypical hemolytic-uremic syndrome with C3 anomaly | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6690728
- GRCh38:
- Chr19:6690717
| C3 | R1134Q | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided, Atypical hemolytic-uremic syndrome | Uncertain significance
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6711203
- GRCh38:
- Chr19:6711192
| C3 | R425L | not provided, Age related macular degeneration 9, Complement component 3 deficiency,
Atypical hemolytic-uremic syndrome with C3 anomaly | Uncertain significance
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6707899
- GRCh38:
- Chr19:6707888
| C3 | | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
not provided | Uncertain significance
(Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6713259
- GRCh38:
- Chr19:6713248
| C3 | R315Q | Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Uncertain significance
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6682236
- GRCh38:
- Chr19:6682225
| C3 | R1393W | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Uncertain significance
(May 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6694500
- GRCh38:
- Chr19:6694489
| C3 | E1032D | not provided, Age related macular degeneration 9, Complement component 3 deficiency,
Atypical hemolytic-uremic syndrome with C3 anomaly | Uncertain significance
(Dec 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6702510
- GRCh38:
- Chr19:6702499
| C3 | E776Q | Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6709818
- GRCh38:
- Chr19:6709807
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency,
not provided | Likely benign
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6694573
- GRCh38:
- Chr19:6694562
| C3 | S1008L | not provided, Atypical hemolytic-uremic syndrome with C3 anomaly | Uncertain significance
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6690729
- GRCh38:
- Chr19:6690718
| C3 | R1134W | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Uncertain significance
(Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6718157
- GRCh38:
- Chr19:6718146
| C3 | T151S | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9,
not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6679480
- GRCh38:
- Chr19:6679469
| C3 | P1495L | not provided, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9 | Uncertain significance
(Apr 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6686290
- GRCh38:
- Chr19:6686279
| C3 | R1219C | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9,
not provided | Uncertain significance
(Apr 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6679430
- GRCh38:
- Chr19:6679419
| C3 | R1512C | Atypical hemolytic-uremic syndrome with C3 anomaly | Likely pathogenic
(Feb 14, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr19:6707214
- GRCh38:
- Chr19:6707203
| C3 | | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
not provided, not specified | Likely benign
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6707877
- GRCh38:
- Chr19:6707866
| C3 | G637R | not provided, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
Complement component 3 deficiency | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6713399
- GRCh38:
- Chr19:6713388
| C3 | | not provided, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
Complement component 3 deficiency | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6694650
- GRCh38:
- Chr19:6694639
| C3 | | Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Benign
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6707567
- GRCh38:
- Chr19:6707556
| C3 | | Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6718128
- GRCh38:
- Chr19:6718117
| C3 | R161W | not provided, Atypical hemolytic-uremic syndrome with C3 anomaly | Pathogenic
(Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6713238
- GRCh38:
- Chr19:6713227
| C3 | K322R | not provided, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9 | Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6694472
- GRCh38:
- Chr19:6694461
| C3 | R1042W | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9,
not provided | Uncertain significance
(Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6677979
- GRCh38:
- Chr19:6677968
| C3 | E1636Q | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9,
not provided | Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6686311
- GRCh38:
- Chr19:6686300
| C3 | | not provided, Complement component 3 deficiency, Age related macular degeneration 9,
Atypical hemolytic-uremic syndrome with C3 anomaly | Likely benign
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6709809
- GRCh38:
- Chr19:6709798
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9,
not specified, not provided | Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6684380
- GRCh38:
- Chr19:6684369
| C3 | | not provided, Complement component 3 deficiency, Age related macular degeneration 9,
Atypical hemolytic-uremic syndrome with C3 anomaly | Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6678222
- GRCh38:
- Chr19:6678211
| C3 | | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6686188
- GRCh38:
- Chr19:6686177
| C3 | V1253M | not provided, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9 | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6686191
- GRCh38:
- Chr19:6686180
| C3 | V1252I | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6711075
- GRCh38:
- Chr19:6711064
| C3 | G468R | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
Atypical hemolytic-uremic syndrome with C3 anomaly, not provided | Uncertain significance
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6718386
- GRCh38:
- Chr19:6718375
| C3 | R102H | not provided, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
Age related macular degeneration 9 | Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6707128
- GRCh38:
- Chr19:6707117
| C3 | R735Q | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9,
not provided | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6678430
- GRCh38:
- Chr19:6678419
| C3 | N1556S | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
not provided | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6686866
- GRCh38:
- Chr19:6686855
| C3 | N1179K | Atypical hemolytic-uremic syndrome with C3 anomaly | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr19:6712611
- GRCh38:
- Chr19:6712600
| C3 | R343C | Inborn genetic diseases, not provided, Age related macular degeneration 9,
Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6684607
- GRCh38:
- Chr19:6684596
| C3 | D1362N | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Uncertain significance
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6684786
- GRCh38:
- Chr19:6684775
| C3 | | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Uncertain significance
(Mar 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6686207-6686208
- GRCh38:
- Chr19:6686196-6686197
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly | Pathogenic
(Jan 3, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr19:6707525
- GRCh38:
- Chr19:6707514
| C3 | A667T | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6681954
- GRCh38:
- Chr19:6681943
| C3 | K1450Q | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
| Uncertain significance
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6697567
- GRCh38:
- Chr19:6697556
| C3 | V862L | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9
| Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6697534
- GRCh38:
- Chr19:6697523
| C3 | C873R | Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6690744
- GRCh38:
- Chr19:6690733
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, not provided,
Complement component 3 deficiency | Benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6690742
- GRCh38:
- Chr19:6690731
| C3 | | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
not provided | Benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:6685015
- GRCh38:
- Chr19:6685004
| C3 | L1318R | not provided, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly,
Complement component 3 deficiency | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6684860
- GRCh38:
- Chr19:6684849
| C3 | | Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6720675
- GRCh38:
- Chr19:6720664
| C3 | | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6712540
- GRCh38:
- Chr19:6712529
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, not provided, Complement component 3 deficiency,
Age related macular degeneration 9 | Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6711007
- GRCh38:
- Chr19:6710996
| C3 | | not provided, Complement component 3 deficiency, Age related macular degeneration 9,
Atypical hemolytic-uremic syndrome with C3 anomaly | Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6710860
- GRCh38:
- Chr19:6710849
| C3 | | not provided, Complement component 3 deficiency, Age related macular degeneration 9,
Atypical hemolytic-uremic syndrome with C3 anomaly | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6720644
- GRCh38:
- Chr19:6720633
| C3 | | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6714013
- GRCh38:
- Chr19:6714002
| C3 | I255V | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, not provided,
Age related macular degeneration 9 | Conflicting interpretations of pathogenicity
(Oct 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6710828
- GRCh38:
- Chr19:6710817
| C3 | A503V | not provided, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly,
Age related macular degeneration 9 | Conflicting interpretations of pathogenicity
(Mar 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6702188
- GRCh38:
- Chr19:6702177
| C3 | D797A | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6697505
- GRCh38:
- Chr19:6697494
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9
| Uncertain significance
(Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6697481
- GRCh38:
- Chr19:6697470
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, not provided, Complement component 3 deficiency,
Age related macular degeneration 9 | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6696589
- GRCh38:
- Chr19:6696578
| C3 | | Atypical hemolytic-uremic syndrome with C3 anomaly, not provided, Complement component 3 deficiency,
Age related macular degeneration 9 | Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:6690722
- GRCh38:
- Chr19:6690711
| C3 | N1136S | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:6690718
- GRCh38:
- Chr19:6690707
| C3 | | not provided, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency,
Age related macular degeneration 9 | Conflicting interpretations of pathogenicity
(Mar 24, 2022) | criteria provided, conflicting interpretations |