| - GRCh37:
- Chr20:23028625
- GRCh38:
- Chr20:23047988
| THBD | T506N | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
| Likely benign (Jun 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028781
- GRCh38:
- Chr20:23048144
| THBD | V454A | not provided, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
| Conflicting interpretations of pathogenicity (Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:23028623
- GRCh38:
- Chr20:23047986
| THBD | P507S | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
| Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028823
- GRCh38:
- Chr20:23048186
| THBD | T440M | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
| Uncertain significance (Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029895
- GRCh38:
- Chr20:23049258
| THBD | R83G | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
| Uncertain significance (Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029962
- GRCh38:
- Chr20:23049325
| THBD | M60I | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
| Uncertain significance (Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029853
- GRCh38:
- Chr20:23049216
| THBD | G97S | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
| Uncertain significance (Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029727
- GRCh38:
- Chr20:23049090
| THBD | A139S | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
| Uncertain significance (Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028528
- GRCh38:
- Chr20:23047891
| THBD | H538Q | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
| Uncertain significance (Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028596
- GRCh38:
- Chr20:23047959
| THBD | G516R | not provided, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
| Uncertain significance (Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028736
- GRCh38:
- Chr20:23048099
| THBD | D469G | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, Thrombomodulin-related bleeding disorder | Uncertain significance (Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029276
- GRCh38:
- Chr20:23048639
| THBD | N289I | Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided
| Uncertain significance (Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029112
- GRCh38:
- Chr20:23048475
| THBD | Q344E | Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided
| Uncertain significance (Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028643
- GRCh38:
- Chr20:23048006
| THBD | T500M | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, not provided
| Uncertain significance (Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23030026
- GRCh38:
- Chr20:23049389
| THBD | Y39F | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
| Uncertain significance (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029244
- GRCh38:
- Chr20:23048607
| THBD | P300S | not provided, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
| Uncertain significance (Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029901
- GRCh38:
- Chr20:23049264
| THBD | V81I | Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided
| Uncertain significance (Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028464
- GRCh38:
- Chr20:23047827
| THBD | E560Q | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
| Uncertain significance (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029865
- GRCh38:
- Chr20:23049228
| THBD | P93T | not provided, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
| Uncertain significance (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23030023
- GRCh38:
- Chr20:23049386
| THBD | P40L | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
| Uncertain significance (Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23030065
- GRCh38:
- Chr20:23049428
| THBD | G26A | not provided, Inborn genetic diseases, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028565
- GRCh38:
- Chr20:23047928
| THBD | L526P | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Feb 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028468
- GRCh38:
- Chr20:23047831
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028442
- GRCh38:
- Chr20:23047805
| THBD | R567Q | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Inborn genetic diseases, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028413
- GRCh38:
- Chr20:23047776
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028387
- GRCh38:
- Chr20:23047750
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027143
- GRCh38:
- Chr20:23046506
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026909
- GRCh38:
- Chr20:23046272
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026895
- GRCh38:
- Chr20:23046258
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23030127
- GRCh38:
- Chr20:23049490
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028245
- GRCh38:
- Chr20:23047608
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028184
- GRCh38:
- Chr20:23047547
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026569
- GRCh38:
- Chr20:23045932
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23030070
- GRCh38:
- Chr20:23049433
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23029840
- GRCh38:
- Chr20:23049203
| THBD | R101P | Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029795
- GRCh38:
- Chr20:23049158
| THBD | N116T | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign/Likely benign (Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029599
- GRCh38:
- Chr20:23048962
| THBD | | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029257
- GRCh38:
- Chr20:23048620
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23029245
- GRCh38:
- Chr20:23048608
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23029244
- GRCh38:
- Chr20:23048607
| THBD | P300T | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Conflicting interpretations of pathogenicity (Aug 27, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:23029177
- GRCh38:
- Chr20:23048540
| THBD | R322L | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Conflicting interpretations of pathogenicity (Sep 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:23027905
- GRCh38:
- Chr20:23047268
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027903
- GRCh38:
- Chr20:23047266
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028937
- GRCh38:
- Chr20:23048300
| THBD | H402R | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027639
- GRCh38:
- Chr20:23047002
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027403
- GRCh38:
- Chr20:23046766
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027310
- GRCh38:
- Chr20:23046673
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23029906
- GRCh38:
- Chr20:23049269
| THBD | G79A | Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided
| Uncertain significance (Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029860
- GRCh38:
- Chr20:23049223
| THBD | | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:23028638
- GRCh38:
- Chr20:23048001
| THBD | G502R | not specified, not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder | Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:23029897
- GRCh38:
- Chr20:23049260
| THBD | G82fs | Abnormal thrombosis, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Likely pathogenic (Feb 1, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029459
- GRCh38:
- Chr20:23048822
| THBD | P228L | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
| Uncertain significance (Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028430
- GRCh38:
- Chr20:23047793
| THBD | T571M | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Apr 20, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr20:23030199
- GRCh38:
- Chr20:23049562
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided | Benign (May 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23030179
- GRCh38:
- Chr20:23049542
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23030153
- GRCh38:
- Chr20:23049516
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Likely benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23030102
- GRCh38:
- Chr20:23049465
| THBD | G14S | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided | Benign (Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029811
- GRCh38:
- Chr20:23049174
| THBD | V111I | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23029486
- GRCh38:
- Chr20:23048849
| THBD | G219V | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23029467
- GRCh38:
- Chr20:23048830
| THBD | | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Conflicting interpretations of pathogenicity (Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:23029426
- GRCh38:
- Chr20:23048789
| THBD | A239V | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23029395
- GRCh38:
- Chr20:23048758
| THBD | N249K | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23029222
- GRCh38:
- Chr20:23048585
| THBD | S307L | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided | Conflicting interpretations of pathogenicity (Jul 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:23029113
- GRCh38:
- Chr20:23048476
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided | Benign/Likely benign (Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029059
- GRCh38:
- Chr20:23048422
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided, Atypical hemolytic-uremic syndrome
| Likely benign (Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23029050
- GRCh38:
- Chr20:23048413
| THBD | | not specified, not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome | Benign (Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028934
- GRCh38:
- Chr20:23048297
| THBD | R403K | Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided | Likely benign (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028724
- GRCh38:
- Chr20:23048087
| THBD | A473V | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome
| Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028640
- GRCh38:
- Chr20:23048003
| THBD | P501L | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided, Atypical hemolytic-uremic syndrome
| Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:23028614
- GRCh38:
- Chr20:23047977
| THBD | V510M | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028388
- GRCh38:
- Chr20:23047751
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028373
- GRCh38:
- Chr20:23047736
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, not provided | Benign (Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028367
- GRCh38:
- Chr20:23047730
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028327
- GRCh38:
- Chr20:23047690
| THBD | | not provided, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (May 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:23028256
- GRCh38:
- Chr20:23047619
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Likely benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028137
- GRCh38:
- Chr20:23047500
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028093
- GRCh38:
- Chr20:23047456
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028089
- GRCh38:
- Chr20:23047452
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028076
- GRCh38:
- Chr20:23047439
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23028063
- GRCh38:
- Chr20:23047426
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027917
- GRCh38:
- Chr20:23047280
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027894
- GRCh38:
- Chr20:23047257
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027852
- GRCh38:
- Chr20:23047215
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027751
- GRCh38:
- Chr20:23047114
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027655
- GRCh38:
- Chr20:23047018
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027621
- GRCh38:
- Chr20:23046984
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027413
- GRCh38:
- Chr20:23046776
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027261
- GRCh38:
- Chr20:23046624
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027243
- GRCh38:
- Chr20:23046606
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027175
- GRCh38:
- Chr20:23046538
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23027099
- GRCh38:
- Chr20:23046462
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026945
- GRCh38:
- Chr20:23046308
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026852
- GRCh38:
- Chr20:23046215
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026725
- GRCh38:
- Chr20:23046088
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026644
- GRCh38:
- Chr20:23046007
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026545
- GRCh38:
- Chr20:23045908
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026496
- GRCh38:
- Chr20:23045859
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026421
- GRCh38:
- Chr20:23045784
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026285
- GRCh38:
- Chr20:23045648
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:23026271
- GRCh38:
- Chr20:23045634
| THBD | | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | Benign (Jan 13, 2018) | criteria provided, single submitter |